diff --git a/babelon/hp-pt.babelon.tsv b/babelon/hp-pt.babelon.tsv index 355bda8..894086d 100644 --- a/babelon/hp-pt.babelon.tsv +++ b/babelon/hp-pt.babelon.tsv @@ -499,9 +499,7 @@ en pt HP:0000933 rdfs:label Posterior fossa cyst at the fourth ventricle Cisto d en pt HP:0001407 rdfs:label Hepatic cysts Cistos hepáticos OFFICIAL orcid:0009-0005-0193-5224 en pt HP:0002350 rdfs:label Cerebellar cyst Cisto cerebelar OFFICIAL orcid:0009-0005-0193-5224 en pt HP:0002416 rdfs:label Subependymal cysts Cistos subependimários OFFICIAL orcid:0009-0005-0193-5224 -en pt HP:0002925 rdfs:label Elevated circulating thyroid-stimulating hormone concentration Concentração elevada de hormônio estimulante da tireoide circulante OFFICIAL orcid:0009-0005-0193-5224 en pt HP:0002926 rdfs:label Abnormality of thyroid physiology Anomalia da fisiologia da glândula tireoide OFFICIAL orcid:0009-0005-0193-5224 -en pt HP:0002930 rdfs:label Impaired sensitivity to thyroid hormone Sensibilidade diminuída ao hormônio tireoidiano OFFICIAL orcid:0009-0005-0193-5224 en pt HP:0004734 rdfs:label Renal cortical microcysts Microcistos renais corticais OFFICIAL orcid:0009-0005-0193-5224 en pt HP:0004823 rdfs:label Anisopoikilocytosis Anisopoiquilocitose OFFICIAL orcid:0009-0005-0193-5224 en pt HP:0005206 rdfs:label Pancreatic pseudocyst Pseudocisto pancreático OFFICIAL orcid:0009-0005-0193-5224 @@ -723,7 +721,6 @@ en pt HP:0002921 rdfs:label Abnormal cerebrospinal fluid morphology Morfologia a en pt HP:0002922 rdfs:label Increased CSF protein concentration Concentração aumentada de proteína no LCR OFFICIAL orcid:0009-0005-0193-5224 en pt HP:0002923 rdfs:label Rheumatoid factor positive Factor reumatoide positivo OFFICIAL orcid:0009-0005-0193-5224 en pt HP:0002925 rdfs:label Elevated circulating thyroid-stimulating hormone concentration Concentração circulante elevada de hormônio estimulante da tireoide OFFICIAL orcid:0009-0005-0193-5224 -en pt HP:0002926 rdfs:label Abnormality of thyroid physiology Anomalia da fisiologia da tireoide OFFICIAL orcid:0009-0005-0193-5224 en pt HP:0002927 rdfs:label Histidinuria Histidinúria OFFICIAL orcid:0009-0005-0193-5224 en pt HP:0002928 rdfs:label Decreased activity of the pyruvate dehydrogenase complex Diminuição da atividade do complexo piruvato desidrogenase OFFICIAL orcid:0009-0005-0193-5224 en pt HP:0002929 rdfs:label Leydig cell insensitivity to gonadotropin Insensibilidade das células de Leydig à gonadotrofina OFFICIAL orcid:0009-0005-0193-5224 @@ -757,7 +754,7 @@ en pt HP:0002972 rdfs:label Reduced delayed hypersensitivity Hipersensibilidade en pt HP:0002973 rdfs:label Abnormal forearm morphology Morfologia anormal do antebraço OFFICIAL orcid:0009-0005-0193-5224 en pt HP:0002974 rdfs:label Radioulnar synostosis Sinostose radioulnar OFFICIAL orcid:0009-0005-0193-5224 en pt HP:0002977 rdfs:label Aplasia/Hypoplasia involving the central nervous system Aplasia/Hipoplasia envolvendo o sistema nervoso central OFFICIAL orcid:0009-0005-0193-5224 -en pt HP:0002979 rdfs:label Bowing of the legs Joelho varo OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0002979 rdfs:label Bowing of the legs Curvatura das pernas OFFICIAL orcid:0009-0005-0193-5224 en pt HP:0002980 rdfs:label Femoral bowing Curvatura femoral OFFICIAL orcid:0009-0005-0193-5224 en pt HP:0002981 rdfs:label Abnormality of the calf Anomalia da panturrilha OFFICIAL orcid:0009-0005-0193-5224 en pt HP:0002982 rdfs:label Tibial bowing Curvatura tibial OFFICIAL orcid:0009-0005-0193-5224 @@ -988,7 +985,7 @@ en pt HP:0003300 rdfs:label Ovoid vertebral bodies Corpos vertebrais ovoides OFF en pt HP:0003301 rdfs:label Irregular vertebral endplates Placas vertebrais terminais irregulares OFFICIAL orcid:0009-0005-0193-5224 en pt HP:0003302 rdfs:label Spondylolisthesis Espondilolistese OFFICIAL orcid:0009-0005-0193-5224 en pt HP:0003304 rdfs:label Spondylolysis Espondilólise OFFICIAL orcid:0009-0005-0193-5224 -en pt HP:0003305 rdfs:label Block vertebrae Bloqueio vertebral OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0003305 rdfs:label Block vertebrae Vértebras em bloco OFFICIAL orcid:0009-0005-0193-5224 en pt HP:0003306 rdfs:label Spinal rigidity Rigidez da coluna vertebral OFFICIAL orcid:0009-0005-0193-5224 en pt HP:0003307 rdfs:label Hyperlordosis Hiperlordose OFFICIAL orcid:0009-0005-0193-5224 en pt HP:0003308 rdfs:label Cervical subluxation Subluxação cervical OFFICIAL orcid:0009-0005-0193-5224 @@ -1011,3 +1008,792 @@ en pt HP:0003329 rdfs:label Hair shafts flattened at irregular intervals and twi en pt HP:0003330 rdfs:label Abnormal bone structure Estrutura óssea anormal OFFICIAL orcid:0009-0005-0193-5224 en pt HP:0003332 rdfs:label Absent primary metaphyseal spongiosa Osso esponjoso metafisário primário ausente OFFICIAL orcid:0009-0005-0193-5224 en pt HP:0003333 rdfs:label Increased serum beta-hexosaminidase Beta-hexosaminidase sérica aumentada OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0003334 rdfs:label Elevated circulating catecholamine level Nível elevado de catecolaminas circulantes OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003336 rdfs:label Abnormal enchondral ossification Ossificação endocondral anormal OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003337 rdfs:label Reduced prothrombin consumption Consumo reduzido de protrombina OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003338 rdfs:label Focal necrosis of right ventricular muscle cells Necrose focal das células musculares do ventrículo direito OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003339 rdfs:label Pyrimidine-responsive megaloblastic anemia Anemia megaloblástica responsiva à pirimidina OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003341 rdfs:label Lamina lucida cleavage Clivagem da lamina lúcida OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003343 rdfs:label Reduced glutathione synthetase level Níveis reduzidos de Glutationa Sintetase OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003344 rdfs:label 3-Methylglutaric aciduria Acidúria 3-metilglutárica OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003345 rdfs:label Elevated urinary norepinephrine level Níveis urinários elevados de norepinefrina OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003347 rdfs:label Impaired lymphocyte transformation with phytohemagglutinin Transformação linfocitária com fitohemaglutinina prejudicada OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003348 rdfs:label Hyperalaninemia Hiperalaninemia OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003349 rdfs:label Low cholesterol esterification rate Baixa taxa de esterificação do colesterol OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003351 rdfs:label Decreased circulating renin level Diminuição do nível de renina circulante OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003352 rdfs:label Endopolyploidy on chromosome studies of bone marrow Endopoliploidia em estudos cromossômicos da medula óssea OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003353 rdfs:label Propionyl-CoA carboxylase deficiency Deficiência de Propionil-CoA Carboxilase OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003354 rdfs:label Hyperthreoninemia Hipertreoninemia OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003355 rdfs:label Aminoaciduria Aminoacidúria OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003357 rdfs:label Thymic hormone decreased Diminuição de hormônios tímicos OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003358 rdfs:label Elevated intracellular cystine Cistina intracelular elevada OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003359 rdfs:label Decreased urinary sulfate Diminuição do sulfato urinário OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003361 rdfs:label Tryptophanuria Triptofanúria OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003362 rdfs:label Increased VLDL cholesterol concentration Concentração aumentada de colesterol VLDL OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003363 rdfs:label Abdominal situs inversus Situs inversus abdominal OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003365 rdfs:label Arthralgia of the hip Artralgia do quadril OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003366 rdfs:label Abnormal femoral neck/head morphology Morfologia anormal do colo/cabeça femoral OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003367 rdfs:label Abnormal femoral neck morphology Morfologia anormal do colo femoral OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003368 rdfs:label Abnormal femoral head morphology Morfologia anormal da cabeça femoral OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003370 rdfs:label Flat capital femoral epiphysis Epífise femoral proximal plana OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003371 rdfs:label Enlargement of the proximal femoral epiphysis Alargamento da epífise femoral proximal OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003375 rdfs:label Narrow greater sciatic notch Incisura isquiática maior estreita OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003376 rdfs:label Steppage gait Marcha em passos altos OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003378 rdfs:label Axonal degeneration/regeneration Degeneração/regeneração axonal OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003380 rdfs:label Decreased number of peripheral myelinated nerve fibers Diminuição da quantidade de fibras nervosas periféricas mielinizadas OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0003382 rdfs:label Hypertrophic nerve changes Alterações nervosas hipertróficas OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003383 rdfs:label Onion bulb formation Formação de bulbo de cebola OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003384 rdfs:label Peripheral axonal atrophy Atrofia axonal periférica OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003387 rdfs:label Decreased number of large peripheral myelinated nerve fibers Diminuição da quantidade de fibras nervosas periféricas grossas mielínicas OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0003388 rdfs:label Easy fatigability Fadigabilidade fácil OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003390 rdfs:label Sensory axonal neuropathy Neuropatia axonal sensorial OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003391 rdfs:label Gowers sign Sinal de Gowers OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003392 rdfs:label First dorsal interossei muscle weakness Fraqueza do músculo primeiro intereósseo dorsal OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003393 rdfs:label Thenar muscle atrophy Atrofia muscular da região tenar OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003394 rdfs:label Muscle spasm Espasmo muscular OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0003396 rdfs:label Syringomyelia Siringomielia OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003397 rdfs:label Generalized hypotonia due to defect at the neuromuscular junction Hipotonia generalizada por defeito na junção neuromuscular OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003398 rdfs:label Abnormal synaptic transmission at the neuromuscular junction Transmissão sináptica anormal na junção neuromuscular OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003400 rdfs:label Basal lamina onion bulb formation Formação em bulbo de cebola na lamina basal OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003401 rdfs:label Paresthesia Parestesia OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003403 rdfs:label EMG: decremental response of compound muscle action potential to repetitive nerve stimulation EMG: resposta decremental do potencial de ação muscular composto à estimulação nervosa repetitiva OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003405 rdfs:label Diffuse axonal swelling Inchaço axonal difuso OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003406 rdfs:label Peripheral nerve compression Compressão de nervo periférico OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003409 rdfs:label Distal sensory impairment of all modalities Comprometimento sensorial distal de todas as modalidades OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003411 rdfs:label Proximal femoral metaphyseal irregularity Irregularidade metafisária femoral proximal OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003413 rdfs:label Atlantoaxial abnormality Anomalia atlantoaxial OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003414 rdfs:label Atlantoaxial dislocation Luxação atlantoaxial OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003416 rdfs:label Spinal canal stenosis Estenose do canal vertebral OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003417 rdfs:label Coronal cleft vertebrae Vértebras com fenda coronal OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003418 rdfs:label Back pain Dor nas costas OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003419 rdfs:label Low back pain Dor lombar OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003422 rdfs:label Vertebral segmentation defect Defeito de segmentação vertebral OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003423 rdfs:label Thoracolumbar kyphoscoliosis Cifoescoliose toracolombar OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003426 rdfs:label First dorsal interossei muscle atrophy Atrofia do músculo primeiro interósseo dorsal OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003427 rdfs:label Thenar muscle weakness Fraqueza muscular tenar OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003429 rdfs:label CNS hypomyelination Hipomielinização do SNC OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003431 rdfs:label Decreased motor nerve conduction velocity Diminuição da velocidade de condução nervosa motora OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003434 rdfs:label Sensory ataxic neuropathy Neuropatia atáxica sensorial OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003435 rdfs:label Cold-induced hand cramps Cãibras nas mãos induzidas pelo frio OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003436 rdfs:label Prolonged miniature endplate currents Correntes de placa terminal em miniatura prolongadas OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003438 rdfs:label Absent Achilles reflex Ausência do reflexo aquileu OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003440 rdfs:label Horizontal sacrum Sacro horizontal OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003443 rdfs:label Decreased size of nerve terminals Diminuição do tamanho dos terminais nervosos OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003444 rdfs:label EMG: chronic denervation signs EMG: sinais de desnervação crónica OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003445 rdfs:label EMG: neuropathic changes EMG: alterações neuropáticas OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003447 rdfs:label Axonal loss Perda axonal OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003448 rdfs:label Decreased sensory nerve conduction velocity Diminuição da velocidade de condução de nervo sensorial OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003449 rdfs:label Cold-induced muscle cramps Cãibras musculares induzidas pelo frio OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003450 rdfs:label Axonal regeneration Regeneração axonal OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003451 rdfs:label Increased rate of premature chromosome condensation Aumento da taxa de condensação cromossômica prematura OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003452 rdfs:label Increased circulating iron concentration Aumento da concentração de ferro circulante OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003453 rdfs:label Antineutrophil antibody positivity Positividade para anticorpo antineutrófilo OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0003454 rdfs:label Platelet antibody positive Positividade para anticorpo antiplaquetas OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0003455 rdfs:label Elevated circulating long chain fatty acid concentration Concentração elevada de ácidos graxos de cadeia longa circulantes OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003456 rdfs:label Low urinary cyclic AMP response to PTH administration Baixa resposta do AMP cíclico urinário à administração de PTH OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003457 rdfs:label EMG abnormality Eletroneuromiografia anormal OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003458 rdfs:label EMG: myopathic abnormalities EMG: anomalias miopáticas OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003459 rdfs:label Polyclonal elevation of IgM Elevação policlonal de IgM OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003460 rdfs:label Decreased circulating total IgA IgA total circulante diminuída OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0003461 rdfs:label Increased urinary O-linked sialopeptides Sialopeptídeos ligados ao O urinários aumentados OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003462 rdfs:label Elevated 8-dehydrocholesterol Elevação do 8-desidrocolesterol OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003463 rdfs:label Increased extraneuronal autofluorescent lipopigment Aumento do lipopigmento autofluorescente extraneuronal OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003465 rdfs:label Elevated 8(9)-cholestenol 8(9)-colestenol elevado OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003466 rdfs:label Paradoxical increased cortisol secretion on dexamethasone suppression test Aumento paradoxal da secreção de cortisol no teste de supressão por dexametasona OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003467 rdfs:label Atlantoaxial instability Instabilidade atlantoaxial OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003468 rdfs:label Abnormal vertebral morphology Morfologia vertebral anormal OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003469 rdfs:label Peripheral dysmyelination Dismielinização periférica OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003470 rdfs:label Paralysis Paralisia OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003472 rdfs:label Hypocalcemic tetany Tetania hipocalcêmica OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003473 rdfs:label Fatigable weakness Fraqueza muscular fatigável OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003474 rdfs:label Somatic sensory dysfunction Disfunção sensorial somática OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003477 rdfs:label Peripheral axonal neuropathy Neuropatia axonal periférica OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003481 rdfs:label Segmental peripheral demyelination/remyelination Desmielinização/remielinização periférica segmentar OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003482 rdfs:label EMG: axonal abnormality EMG: anomalia axonal OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003484 rdfs:label Upper limb muscle weakness Fraqueza muscular dos membros superiores OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003487 rdfs:label Babinski sign Babinski positivo OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003489 rdfs:label Acute episodes of neuropathic symptoms Episódios agudos de sintomas neuropáticos OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003491 rdfs:label Elevated urine pyrophosphate Pirofosfato urinário elevado OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003492 rdfs:label High urinary gonadotropin level Alto nível de gonadotrofina urinária OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003493 rdfs:label Antinuclear antibody positivity Positividade de anticorpos antinucleares OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003495 rdfs:label GM2-ganglioside accumulation Acúmulo de gangliosídeo GM2 OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003496 rdfs:label Increased circulating IgM level Aumento do nível de IgM circulante OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003498 rdfs:label Disproportionate short stature Baixa estatura desproporcional OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003502 rdfs:label Mild short stature Baixa estatura leve OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003508 rdfs:label Proportionate short stature Baixa estatura proporcional OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003510 rdfs:label Severe short stature Baixa estatura severa OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003513 rdfs:label Reduced ratio of renal calcium clearance to creatinine clearance Relação reduzida de depuração renal de cálcio para depuração de creatinina OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003514 rdfs:label Deficiency or absence of cytochrome b(-245) Deficiência ou ausência de citocromo b(-245) OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003517 rdfs:label Birth length greater than 97th percentile Comprimento ao nascer maior que o percentil 97 OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003521 rdfs:label Disproportionate short-trunk short stature Baixa estatura de tronco curto desproporcional OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003524 rdfs:label Decreased methionine synthase activity Diminuição da atividade da metionina sintase OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003526 rdfs:label Orotic acid crystalluria Cristalúria de ácido orótico OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003527 rdfs:label Hyperprostaglandinuria Hiperprostaglandinúria OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003528 rdfs:label Elevated circulating calcitonin concentration Concentração elevada de calcitonina circulante OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003529 rdfs:label Parathormone-independent increased renal tubular calcium reabsorption Reabsorção tubular renal de cálcio aumentada independente de paratormônio OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003530 rdfs:label Elevated circulating glutaric acid concentration Concentração elevada de ácido glutárico circulante OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003532 rdfs:label Ornithinuria Ornitinúria OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003533 rdfs:label Reduced acetaldehyde dehydrogenase level Nível reduzido de acetaldeído desidrogenase OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003534 rdfs:label Reduced xanthine dehydrogenase level Nível reduzido de xantina desidrogenase OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003535 rdfs:label 3-Methylglutaconic aciduria Acidúria 3-metilglutacônica OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003536 rdfs:label Decreased fumarate hydratase activity Diminuição da atividade da fumarato hidratase OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003537 rdfs:label Hypouricemia Hipouricemia OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003538 rdfs:label Increased iduronate sulfatase level Aumento do nível de iduronato sulfatase OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003540 rdfs:label Impaired platelet aggregation Agregação plaquetária prejudicada OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003541 rdfs:label Urinary glycosaminoglycan excretion Excreção urinária de glicosaminoglicanos OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003542 rdfs:label Increased serum pyruvate Piruvato sérico aumentado OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003546 rdfs:label Exercise intolerance Intolerância ao exercício OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003547 rdfs:label Shoulder girdle muscle weakness Fraqueza muscular da cintura escapular OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003548 rdfs:label Subsarcolemmal accumulations of abnormally shaped mitochondria Acúmulo subsarcolemal de mitocôndrias de formato anormal OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003549 rdfs:label Abnormality of connective tissue Anomalia do tecido conjuntivo OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003550 rdfs:label Predominantly lower limb lymphedema Linfedema predominantemente de membros inferiores OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003551 rdfs:label Difficulty climbing stairs Dificuldade em subir escadas OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003552 rdfs:label Muscle stiffness Rigidez muscular OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003554 rdfs:label Type 2 muscle fiber atrophy Atrofia de fibras musculares tipo 2 OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003555 rdfs:label Muscle fiber splitting Divisão das fibras musculares OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003557 rdfs:label Increased variability in muscle fiber diameter Aumento da variabilidade no diâmetro das fibras musculares OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003558 rdfs:label Viral infection-induced rhabdomyolysis Rabdomiólise induzida por infecção viral OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003559 rdfs:label Muscle hyperirritability Hiperirritabilidade muscular OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003560 rdfs:label Muscular dystrophy Distrofia muscular OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003561 rdfs:label Birth length less than 3rd percentile Comprimento ao nascer menor que o 3º percentil OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003562 rdfs:label Abnormal metaphyseal vascular invasion Invasão vascular metafisária anormal OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003563 rdfs:label Decreased LDL cholesterol concentration Diminuição da concentração de colesterol LDL OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003564 rdfs:label Folate-dependent fragile site at Xq28 Sítio frágil dependente de folato em Xq28 OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003565 rdfs:label Elevated erythrocyte sedimentation rate Aumento da velocidade de sedimentação de hemácias OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003566 rdfs:label Increased serum prostaglandin E2 Aumento da prostaglandina E2 sérica OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003568 rdfs:label Decreased glucosephosphate isomerase level Diminuição do nível de glicose-6-fosfato isomerase OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003570 rdfs:label Molybdenum cofactor deficiency Deficiência do cofator de molibdênio OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003571 rdfs:label Propionic acidemia Acidemia Propiônica OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003572 rdfs:label Low plasma citrulline Citrulina plasmática baixa OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003573 rdfs:label Increased total bilirubin Aumento da bilirrubina total OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003574 rdfs:label Positive regitine blocking test Teste de bloqueio de regitina positivo OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003575 rdfs:label Increased intracellular sodium Sódio intracelular aumentado OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003577 rdfs:label Congenital onset Início congénito OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003581 rdfs:label Adult onset Início na idade adulta OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003584 rdfs:label Late onset Início tardio OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003587 rdfs:label Insidious onset Início insidioso OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003593 rdfs:label Infantile onset Início na infância OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003596 rdfs:label Middle age onset Início na meia-idade OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003606 rdfs:label Absent urinary urothione Ausência de urotiona urinária OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003607 rdfs:label 4-hydroxyphenylacetic aciduria Acidúria 4-hidroxifenilacética OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003609 rdfs:label Foam cells with lamellar inclusion bodies Células espumosas com corpos de inclusão lamelar OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003610 rdfs:label Fibroblast metachromasia Metacromasia fibroblástica OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003612 rdfs:label Positive ferric chloride test Teste positivo de cloreto férrico OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003613 rdfs:label Antiphospholipid antibody positivity Positividade de anticorpo antifosfolipídeo OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003614 rdfs:label Trimethylaminuria Trimetilaminuria OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003616 rdfs:label Premature separation of centromeric heterochromatin Separação prematura de heterocromatina centromérica OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003621 rdfs:label Juvenile onset Início juvenil OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003623 rdfs:label Neonatal onset Início neonatal OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003634 rdfs:label Amyoplasia Amioplasia OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003635 rdfs:label Loss of subcutaneous adipose tissue in limbs Perda de tecido adiposo subcutâneo nos membros OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003637 rdfs:label Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity Atividade de 4-hidroxifenilpiruvato dioxigenase circulante reduzida OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003639 rdfs:label Elevated urinary epinephrine level Nível elevado de epinefrina urinária OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003640 rdfs:label CNS foam cells Células espumosas no SNC OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003641 rdfs:label Hemoglobinuria Hemoglobinúria OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003642 rdfs:label Type I transferrin isoform profile Perfil de isoforma de transferrina Tipo I OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003643 rdfs:label Sulfite oxidase deficiency Deficiência de sulfito oxidase OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003645 rdfs:label Prolonged partial thromboplastin time Tempo de tromboplastina parcial ativada aumentado OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003646 rdfs:label Bicarbonaturia Bicarbonatúria OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003647 rdfs:label Electron transfer flavoprotein-ubiquinone oxidoreductase defect Defeito da flavoproteína-ubiquinona de transporte de eletrons-oxidorredutase OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003648 rdfs:label Lacticaciduria Acidúria lática OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003649 rdfs:label Abnormality of glycoside metabolism Anomalia do metabolismo de glicosídeos OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003651 rdfs:label Foam cells Células Espumosas OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003652 rdfs:label Recurrent myoglobinuria Mioglobinúria recorrente OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003653 rdfs:label Cellular metachromasia Metacromasia celular OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003654 rdfs:label Reduced dihydropyrimidine dehydrogenase level Nível reduzido de di-hidropirimidina desidrogenase OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003655 rdfs:label Reduced level of N-acetylglucosaminyltransferase II Nível reduzido de N-acetilglucosaminil transferase II OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003656 rdfs:label Decreased beta-glucocerebrosidase level Diminuição do nível de beta-glucocerebrosidase OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003657 rdfs:label Vascular granular osmiophilic material deposition Deposição de material osmiofílico granular vascular OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003658 rdfs:label Hypomethioninemia Hipometioninemia OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003665 rdfs:label Amyotrophy of the musculature of the pelvis Amiotrofia da musculatura da pelve OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003674 rdfs:label Onset Começo OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003676 rdfs:label Progressive Progressivo OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003677 rdfs:label Slowly progressive Lentamente progressivo OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003678 rdfs:label Rapidly progressive Rapidamente progressivo OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003679 rdfs:label Pace of progression Ritmo de progressão OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003680 rdfs:label Nonprogressive Não progressivo OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003682 rdfs:label Variable progression rate Taxa de progressão variável OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003687 rdfs:label Centrally nucleated skeletal muscle fibers Fibras musculares esqueléticas nucleadas centralmente OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003688 rdfs:label Cytochrome C oxidase-negative muscle fibers Fibras musculares citocromo C oxidase-negativas OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003689 rdfs:label Multiple mitochondrial DNA deletions Múltiplas deleções de DNA mitocondrial OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003690 rdfs:label Limb muscle weakness Fraqueza muscular dos membros OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003691 rdfs:label Scapular winging Escápula alada OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003693 rdfs:label Distal amyotrophy Amiotrofia distal OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003694 rdfs:label Late-onset proximal muscle weakness Fraqueza muscular proximal de início tardio OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003696 rdfs:label Absent epiphysis of the distal phalanx of the 5th finger Epífise da falange distal do 5º dedo da mão ausente OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003697 rdfs:label Scapuloperoneal amyotrophy Amiotrofia escapuloperoneal OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003698 rdfs:label Difficulty standing Dificuldade em se manter de pé OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003700 rdfs:label Generalized amyotrophy Amiotrofia generalizada OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003701 rdfs:label Proximal muscle weakness Fraqueza muscular proximal OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003704 rdfs:label Scapuloperoneal weakness Fraqueza escapuloperoneal OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003707 rdfs:label Calf muscle pseudohypertrophy Pseudo-hipertrofia muscular da panturrilha OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003710 rdfs:label Exercise-induced muscle cramps Cãibras musculares induzidas pelo exercício OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003712 rdfs:label Skeletal muscle hypertrophy Hipertrofia muscular esquelética OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003713 rdfs:label Muscle fiber necrosis Necrose das fibras musculares OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003715 rdfs:label Myofibrillar myopathy Miopatia miofibrilar OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003716 rdfs:label Generalized muscular appearance from birth Aparência musculosa generalizada desde o nascimento OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003717 rdfs:label Minimal subcutaneous fat Gordura subcutânea mínima OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003719 rdfs:label Muscle mounding Contração muscular localizada à percussão OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003720 rdfs:label Generalized muscle hypertrophy Hipertrofia muscular generalizada OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003722 rdfs:label Neck flexor weakness Fraqueza dos flexores do pescoço OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003724 rdfs:label Shoulder girdle muscle atrophy Atrofia muscular da cintura escapular OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003725 rdfs:label Firm muscles Músculos firmes OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003729 rdfs:label Enteroviral dermatomyositis syndrome Síndrome de dermatomiosite enteroviral OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003730 rdfs:label EMG: myotonic runs EMG: descargas miotônicas OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003731 rdfs:label Quadriceps muscle weakness Fraqueza muscular do quadríceps OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003733 rdfs:label Thigh hypertrophy Hipertrofia da coxa OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003736 rdfs:label Autophagic vacuoles Vacúolos autofágicos OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003737 rdfs:label Mitochondrial myopathy Miopatia mitocondrial OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003738 rdfs:label Exercise-induced myalgia Mialgia induzida pelo exercício OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003739 rdfs:label Myoclonic spasms Espasmos mioclónicos OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003740 rdfs:label Myotonia with warm-up phenomenon Miotonia com fenómeno de aquecimento OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003743 rdfs:label Genetic anticipation Antecipação Genética OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003744 rdfs:label Genetic anticipation with paternal anticipation bias Antecipação genética com viés paterno de antecipação OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003745 rdfs:label Sporadic Esporádico OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003749 rdfs:label Pelvic girdle muscle weakness Fraqueza muscular da cintura pélvica OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003750 rdfs:label Increased muscle fatiguability Fadigabilidade muscular aumentada OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003752 rdfs:label Episodic flaccid weakness Fraqueza flácida episódica OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003755 rdfs:label Type 1 fibers relatively smaller than type 2 fibers Fibras tipo 1 relativamente menores que as fibras tipo 2 OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003756 rdfs:label Skeletal myopathy Miopatia esquelética OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003758 rdfs:label Reduced subcutaneous adipose tissue Tecido adiposo subcutâneo reduzido OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003759 rdfs:label Hypoplasia of lymphatic vessels Hipoplasia de vasos linfáticos OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003760 rdfs:label Percussion-induced rapid rolling muscle contractions Contrações musculares ondulantes rápidas induzidas pela percussão OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003761 rdfs:label Calcinosis Calcinose OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003762 rdfs:label Uterus didelphys Útero didelfo OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003763 rdfs:label Bruxism Bruxismo OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003764 rdfs:label Nevus Nevo OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003765 rdfs:label Psoriasiform dermatitis Dermatite psoriasiforme OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003768 rdfs:label Periodic paralysis Paralisia periódica OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003771 rdfs:label Pulp calcification Calcificação da Polpa Dentária OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003774 rdfs:label Stage 5 chronic kidney disease Doença renal crónica em fase 5 OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003777 rdfs:label Pili torti Pili torti OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003778 rdfs:label Short mandibular rami Ramos mandibulares curtos OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003779 rdfs:label Antegonial notching of mandible Entalhe antegonial da mandíbula OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003781 rdfs:label Excessive salivation Hipersalivação OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003782 rdfs:label Eunuchoid habitus Hábito eunucoide OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003784 rdfs:label Type 1 collagen overmodification Modificação excessiva do colágeno tipo 1 OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003785 rdfs:label Decreased CSF homovanillic acid concentration Diminuição da concentração de ácido homovanílico no LCR OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003787 rdfs:label Type 1 and type 2 muscle fiber minicore regions Regiões de minicore em fibras musculares tipo e tipo 2 OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003789 rdfs:label Minicore myopathy Miopatia multiminicore OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003791 rdfs:label Deposits immunoreactive to beta-amyloid protein Depósitos imunorreativos à proteína beta-amiloide OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003795 rdfs:label Short middle phalanx of toe Falange média curta em dedo do pé OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003796 rdfs:label Irregular iliac crest Crista ilíaca irregular OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003797 rdfs:label Limb-girdle muscle atrophy Atrofia muscular da cintura dos membros OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003798 rdfs:label Nemaline bodies Corpos nemalínicos OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003799 rdfs:label Marked delay in bone age Atraso acentuado na idade óssea OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003800 rdfs:label Muscle abnormality related to mitochondrial dysfunction Anomalia muscular relacionada à disfunção mitocondrial OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003803 rdfs:label Type 1 muscle fiber predominance Predominância de fibras musculares tipo 1 OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003805 rdfs:label Rimmed vacuoles Vacúolos marginados OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003808 rdfs:label Abnormal muscle tone Tônus muscular anormal OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003809 rdfs:label Reduced intrathoracic adipose tissue Tecido adiposo intratorácico reduzido OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003810 rdfs:label Late-onset distal muscle weakness Fraqueza muscular distal de início tardio OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003811 rdfs:label Neonatal death Morte neonatal OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003812 rdfs:label Phenotypic variability Variabilidade fenotípica OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003819 rdfs:label Death in childhood Morte na infância OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003826 rdfs:label Stillbirth Morte fetal OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003828 rdfs:label Variable expressivity Expressividade variável OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003829 rdfs:label Typified by incomplete penetrance Tipificado por penetrância incompleta OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003831 rdfs:label Typified by age-related disease onset Tipificado pelo início da doença relacionado à idade OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003832 rdfs:label Abnormality of the tibial plateaux Platô tibial anormal OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003833 rdfs:label Laterally deficient tibial plateaux Plato tibial lateralmente deficiente OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003834 rdfs:label Shoulder dislocation Deslocamento do ombro OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003835 rdfs:label Shoulder subluxation Subluxação do ombro OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003836 rdfs:label Stippled calcification of the shoulder Calcificação pontilhada do ombro OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003837 rdfs:label Soft-tissue ossification around the shoulders Ossificação dos tecidos moles ao redor dos ombros OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003839 rdfs:label Abnormal upper limb epiphysis morphology Morfologia anormal de epífise em mebro superior OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003840 rdfs:label Delayed upper limb epiphyseal ossification Ossificação epifisária tardia do membro superior OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003841 rdfs:label Fragmented epiphyses of the upper limbs Epífises dos membros superiores fragmentadas OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003842 rdfs:label Irregular epiphyses of the upper limbs Epífises dos membros superiores irregulares OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003843 rdfs:label Round epiphyses of the upper limbs Epífises dos membros superiores arredondadas OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003844 rdfs:label Small epiphyses of the upper limbs Epífises dos membros superiores com tamanho reduzido OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003846 rdfs:label Wide epiphyseal plates of the upper limbs Placas epifisárias dos membros superiores largas OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003848 rdfs:label Cupped metaphyses of the upper limbs Metáfises em taça nos membros superiores OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003849 rdfs:label Flared upper limb metaphysis Metáfise de membro superior bojuda OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003850 rdfs:label Upper-limb metaphyseal irregularity Irregularidade metafisária de membro superior OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003851 rdfs:label Lytic defects in metaphyses of the upper limbs Defeitos líticos em metáfises dos membros superiores OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003852 rdfs:label Normal density transverse bands in metaphyses of the upper limbs Bandas transversais de densidade normal em metáfises dos membros superiores OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003853 rdfs:label Sclerosis with transverse striations in metaphyses of the upper limbs Esclerose com estrias transversais em metáfises dos membros superiores OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003854 rdfs:label Sclerosis of metaphyses of the upper limbs Esclerose das metáfises dos membros superiores OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003855 rdfs:label Spurred metaphyses of the upper limbs Metáfises esporeadas dos membros superiores OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003856 rdfs:label Upper limb metaphyseal widening Alargamento metafisário em membro superior OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003858 rdfs:label Cortical diaphyseal irregularity of the upper limbs Irregularidade cortical diafisária dos membros superiores OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003859 rdfs:label Cortical diaphyseal thickening of the upper limbs Espessamento cortical diafisário dos membros superiores OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003860 rdfs:label Diaphyseal sclerosis of the upper limbs Esclerose diafisária dos membros superiores OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003861 rdfs:label Broad diaphyses of the upper limbs Diáfises amplas dos membros superiores OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003862 rdfs:label Absent humerus Úmero ausente OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003863 rdfs:label Angulated humerus Úmero angulado OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003864 rdfs:label Bifid humerus Úmero bífido OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003865 rdfs:label Bowed humerus Úmero curvado OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003866 rdfs:label Coarse humeral trabeculae Trabéculas umerais grossas OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003867 rdfs:label Humeral cortical irregularity Irregularidade cortical umeral OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003868 rdfs:label Humeral cortical thickening Espessamento cortical umeral OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003869 rdfs:label Humeral cortical thinning Diluição cortical umeral OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003870 rdfs:label Crumpled humerus Úmero amassado OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003871 rdfs:label Deformed humerus Úmero deformado OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003872 rdfs:label Humeral exostoses Exostoses umerais OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003874 rdfs:label Humerus varus Úmero varo OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003875 rdfs:label Humeral lytic defects Defeitos líticos umerais OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003876 rdfs:label Osteoporotic humerus Úmero osteoporótico OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003877 rdfs:label Oval transradiancy of humerus Transradiancia oval do úmero OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003878 rdfs:label Periosteal new bone of humerus Formação óssea periosteal do úmero OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003879 rdfs:label Humeral pseudarthrosis Pseudartrose umeral OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003880 rdfs:label Sclerotic foci of the humerus Focos escleróticos do úmero OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003881 rdfs:label Humeral sclerosis Esclerose umeral OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003882 rdfs:label Slender humerus Úmero delgado OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003883 rdfs:label Tapered humerus Úmero afunilado OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003884 rdfs:label Triangular humerus Úmero triangular OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003885 rdfs:label Undermodeled humerus Úmero submodelado OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003886 rdfs:label Wide humerus Úmero largo OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003887 rdfs:label Abnormal humeral head morphology Morfologia anormal da cabeça do úmero OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003888 rdfs:label Flattened humeral heads Cabeças umerais achatadas OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003889 rdfs:label Abnormal deltoid tuberosity morphology Morfologia anormal da tuberosidade deltóidea OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003890 rdfs:label Prominent deltoid tuberosities Tuberosidades deltóideas proeminentes OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003891 rdfs:label Abnormality of the humeral epiphysis Anomalia da epífise umeral OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003892 rdfs:label Absent humeral epiphyseal ossification Ausência de ossificação epifisária umeral OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003893 rdfs:label Advanced ossification of the humeral epiphysis Ossificação avançada da epífise umeral OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003894 rdfs:label Delayed humeral epiphyseal ossification Ossificação epifisária do umero atrasada OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003895 rdfs:label Flattened humeral epiphyses Epífises umerais achatadas OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003896 rdfs:label Irregular humeral epiphyses Epífises umerais irregulares OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003897 rdfs:label Irregular ossification of the humeral epiphyses Ossificação irregular das epífises umerais OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003898 rdfs:label Large humeral epiphyses Epífises umerais grandes OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003899 rdfs:label Round humeral epiphyses Epífises umerais arredondadas OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003900 rdfs:label Small humeral epiphyses Epífises umerais pequenas OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003901 rdfs:label Stippled calcification of the humeral epiphyses Calcificações pontilhadas das epífises umerais OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003902 rdfs:label Epiphyseal stippling of the humerus Pontilhado epifisário do úmero OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003903 rdfs:label Broad humeral epiphyses Epífises umerais amplas OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003904 rdfs:label Wide epiphyses of the upper limbs Epífises dos membros superiores alargadas OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003905 rdfs:label Abnormality of the humeral epiphyseal plate Anomalia da placa epifisária do úmero OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003906 rdfs:label Broad humeral epiphyseal plate Placa epifisária do úmero largo OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003907 rdfs:label Abnormal humeral metaphysis morphology Morfologia anormal da metáfise umeral OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003908 rdfs:label Corner fracture of metaphysis Fratura de canto da metáfise OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003909 rdfs:label Cortical subperiosteal resorption of humeral metaphyses Reabsorção subperiosteal cortical de metáfises umerais OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003910 rdfs:label Enlarged humeral metaphyses Metáfises umerais aumentadas OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003911 rdfs:label Flared humeral metaphysis Metáfise umeral bojuda OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003912 rdfs:label Frayed humeral metaphyses Metáfises umerais desgastadas OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003913 rdfs:label Humeral metaphyseal irregularity Irregularidade metafisária umeral OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003914 rdfs:label Irregular ossification of humeral metaphyses Ossificação irregular de metáfises umerais OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003915 rdfs:label Lytic defects of the humeral metaphysis Defeitos líticos da metáfise umeral OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003916 rdfs:label Normal-density transverse humeral bands Bandas umerais transversais de densidade normal OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003917 rdfs:label Pointed humeral metaphysis Metáfise umeral pontiaguda OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003918 rdfs:label Sclerotic humeral metaphysis Metáfise esclerótica do úmero OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003919 rdfs:label Sclerotic humeral metaphysis with longitudinal striations Metáfise do úmero esclerótica com estrias longitudinais OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003920 rdfs:label Sloping humeral metaphysis Metáfise umeral inclinada OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003921 rdfs:label Laterally sloping humeral metaphysis Metáfise umeral lateralmente inclinada OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003922 rdfs:label Spurred humeral metaphysis Metáfise umeral esporeada OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003923 rdfs:label Square humeral metaphysis Metáfise do úmero quadrada OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003924 rdfs:label Stippled calcification of humeral metaphysis Calcificação pontilhada da metáfise umeral OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003926 rdfs:label Abnormal humeral diaphysis morphology Morfologia anormal da diáfise umeral OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003927 rdfs:label Cortical irregularity of humeral diaphysis Irregularidade cortical da diáfise umeral OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003928 rdfs:label Cortical thickening of humeral diaphysis Espessamento cortical da diáfise umeral OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003929 rdfs:label Ground glass opacity of humeral diaphysis Opacidade em vidro fosco da diáfise umeral OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003930 rdfs:label Lytic defects of humeral diaphysis Defeitos líticos da diáfise umeral OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003931 rdfs:label Periosteal new bone of humeral diaphysis Formação óssea periosteal da diáfise umeral OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003932 rdfs:label Sclerotic foci of humeral diaphysis Focos escleróticos da diáfise umeral OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003933 rdfs:label Sclerosis of humeral diaphysis Esclerose da diáfise umeral OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003934 rdfs:label Slender humeral diaphysis Diáfise umeral delgada OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003935 rdfs:label Wide humeral diaphysis Diáfise umeral ampla OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003938 rdfs:label Synostosis involving the elbow Sinostose envolvendo o cotovelo OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003939 rdfs:label Humeroulnar synostosis Sinostose umeroulnar OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003940 rdfs:label Osteoarthritis of the elbow Osteoartrite do cotovelo OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003941 rdfs:label Stippled calcification of the elbow Calcificação pontilhada do cotovelo OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003942 rdfs:label Synovial chondromatosis of the elbow Condromatose sinovial do cotovelo OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003943 rdfs:label Abnormality of the joint spaces of the elbow Anomalia dos espaços articulares do cotovelo OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003944 rdfs:label Narrow joint spaces of the elbow Estreitamento dos espaços articulares do cotovelo OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003945 rdfs:label Irregular articular surfaces of the elbow joints Superfícies articulares das articulações do cotovelo irregulares OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003946 rdfs:label Abnormality of the epiphyses of the elbow Anomalia das epífises do cotovelo OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003947 rdfs:label Delayed elbow epiphyseal ossification Ossificação epifisária do cotovelo atrasada OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003948 rdfs:label Irregular epiphyses of the elbow Epífises do cotovelo irregulares OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003949 rdfs:label Abnormal elbow metaphysis morphology Morfologia anormal da metáfise do cotovelo OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003950 rdfs:label Flared elbow metaphyses Metáfises de cotovelo bojudas OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003951 rdfs:label Distal humeral metaphyseal irregularity Irregularidade metafisária umeral distal OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003952 rdfs:label Sclerotic foci of metaphyses of the elbow Focos escleróticos em metáfises do cotovelo OFFICIAL orcid:0009-0004-3413-3132 +en pt HP:0003953 rdfs:label Absent forearm bone Ausência de osso do antebraço OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0003954 rdfs:label Angulated forearm bones Ossos do antebraço angulados OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0003955 rdfs:label Bone-in-a-bone appearance of forearm Antebraço com aparência de osso dentro de osso OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0003956 rdfs:label Bowed forearm bones Ossos do antebraço arqueados OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0003957 rdfs:label Cortical thickening of the forearm bones Espessamento cortical dos ossos do antebraço OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0003958 rdfs:label Cross-fusion of the forearm bones Sinostose dos ossos do antebraço OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0003959 rdfs:label Deformed forearm bones Ossos do antebraço deformados OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0003960 rdfs:label Exostoses of the forearm bones Exostoses dos ossos do antebraço OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0003961 rdfs:label Fractured forearm bones Ossos do antebraço fraturados OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0003963 rdfs:label Lytic defects of the forearm bones Defeitos líticos dos ossos do antebraço OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0003964 rdfs:label Osteoporotic forearm bones Ossos do antebraço osteoporóticos OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0003965 rdfs:label Pseudarthrosis of the forearm bones Pseudartrose dos ossos do antebraço OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0003966 rdfs:label Sclerotic foci in forearm bones Focos escleróticos nos ossos do antebraço OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0003967 rdfs:label Sclerotic forearm bones Ossos do antebraço escleróticos OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0003969 rdfs:label Slender forearm bones Ossos do antebraço delgados OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0003970 rdfs:label Undermodelled forearm bones Ossos do antebraço submodelados OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0003971 rdfs:label Broad forearm bones Ossos do antebraço largos OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0003973 rdfs:label Wide radioulnar joints Articulações radioulnares largas OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0003974 rdfs:label Absent radius Rádio ausente OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0003976 rdfs:label Constricted radius Rádio constrito OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0003977 rdfs:label Deformed radius Rádio deformado OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0003978 rdfs:label Fractured radius Fratura do rádio OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0003979 rdfs:label Lytic defects of the radius Defeitos líticos do rádio OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0003980 rdfs:label Pseudarthrosis of the radius Pseudartrose do rádio OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0003981 rdfs:label Broad radius Rádio largo OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0003982 rdfs:label Aplasia of the ulna Aplasia da ulna OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0003984 rdfs:label Posteriorly dislocated ulna Ulna luxada posteriormente OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0003985 rdfs:label Exostoses of the ulna Exostoses da ulna OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0003986 rdfs:label Exostoses of the radius Exostoses do rádio OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0003987 rdfs:label Fractured ulna Fratura da ulna OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0003988 rdfs:label Long ulna Ulna longa OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0003989 rdfs:label Notched ulna Ulna entalhada OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0003990 rdfs:label Pointed ulna Ulna pontiaguda OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0003991 rdfs:label Osteosclerosis of the ulna Osteosclerose da ulna OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0003992 rdfs:label Slender ulna Ulna delgada OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0003993 rdfs:label Broad ulna Ulna larga OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0003994 rdfs:label Dislocated wrist Luxação do pulso OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0003995 rdfs:label Abnormality of the radial head Anomalia da cabeça radial OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0003996 rdfs:label Flattened radial head Cabeça radial achatada OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0003997 rdfs:label Hypoplastic radial head Cabeça radial hipoplásica OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0003998 rdfs:label Constricted radial neck Colo do rádio constrito OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0003999 rdfs:label Abnormality of radial epiphyses Anomalia das epífises radiais OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004000 rdfs:label Cone-shaped distal radial epiphysis Epífise radial distal em forma de cone OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004001 rdfs:label Medially deficient radial epiphyses Epífises radiais deficientes medialmente OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004002 rdfs:label Flattened radial epiphyses Epífises radiais achatadas OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004003 rdfs:label Medially flattened radial epiphyses Epífises radiais achatadas medialmente OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004004 rdfs:label Irregular radial epiphyses Epífises radiais irregulares OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004005 rdfs:label Large radial epiphyses Epífises radiais grandes OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004006 rdfs:label Round radial epiphyses Epífises radiais redondas OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004007 rdfs:label Sclerotic radial epiphyses Epífises radiais escleróticas OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004008 rdfs:label Sloping radial epiphyses Epífises radiais inclinadas OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004009 rdfs:label Medially sloping radial epiphyses Epífises radiais inclinadas medialmente OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004010 rdfs:label Small radial epiphyses Epífises radiais pequenas OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004012 rdfs:label Premature fusion of the radial epiphyseal plates Fusão prematura das placas epifisárias radiais OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004013 rdfs:label Medially fused radial epiphyseal plates Placas epifisárias radiais fundidas medialmente OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004014 rdfs:label Broad radial epiphyseal plate Placa epifisária radial ampla OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004015 rdfs:label Abnormal radial metaphysis morphology Morfologia anormal da metáfise radial OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004016 rdfs:label Cupped radial metaphyses Metáfises radiais em taça OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004017 rdfs:label Exostoses of the radial metaphysis Exostoses da metáfise radial OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004018 rdfs:label Flared radial metaphysis Metáfise radial alargada OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004019 rdfs:label Radial metaphyseal irregularity Irregularidade metafisária radial OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004020 rdfs:label Irregular ossification of the radial metaphysis Ossificação irregular da metáfise radial OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004021 rdfs:label Lytic defects of radial metaphysis Defeitos líticos da metáfise radial OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004022 rdfs:label Sclerotic radial metaphysis with longitudinal striations Metáfise radial esclerótica com estrias longitudinais OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004023 rdfs:label Sloping radial metaphysis Metáfise radial inclinada OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004024 rdfs:label Medially sloping radial metaphysis Metáfise radial inclinada medialmente OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004025 rdfs:label Spurred radial metaphysis Metáfise radial espiculada OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004026 rdfs:label Broad radial metaphysis Metáfise radial larga OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004027 rdfs:label Abnormality of radial diaphysis Anomalia da diáfise radial OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004028 rdfs:label Spurs of radial diaphysis Espículas da diáfise radial OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004029 rdfs:label Lytic defects of radial diaphysis Defeitos líticos da diáfise radial OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004030 rdfs:label Patchy sclerosis of radial diaphysis Esclerose irregular da diáfise radial OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004031 rdfs:label Broad radial diaphysis Diáfise radial larga OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004032 rdfs:label Abnormal olecranon morphology Morfologia anormal do olécrano OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004033 rdfs:label Curved olecranon Olécrano curvo OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004034 rdfs:label Irregular olecranon Olécrano irregular OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004035 rdfs:label Abnormal ulnar styloid process morphology Morfologia anormal do processo estiloide ulnar OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004036 rdfs:label Long styloid process of ulna Processo estiloide ulnar longo OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004037 rdfs:label Abnormal ulnar epiphysis morphology Morfologia anormal da epífise ulnar OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004039 rdfs:label Abnormal ulnar metaphysis morphology Morfologia anormal da metáfise ulnar OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004040 rdfs:label Corner fragments of ulnar metaphysis Fragmentos de canto da metáfise ulnar OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004041 rdfs:label Cupped ulnar metaphysis Metáfise ulnar em taça OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004042 rdfs:label Ulnar metaphyseal irregularity Irregularidade metafisária ulnar OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004043 rdfs:label Lytic defects of ulnar metaphysis Defeitos líticos da metáfise ulnar OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004044 rdfs:label Pointed ulnar metaphysis Metáfise ulnar pontiaguda OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004045 rdfs:label Sloping ulnar metaphysis Metáfise ulnar inclinada OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004046 rdfs:label Spurred ulnar metaphysis Metáfise ulnar espiculada OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004047 rdfs:label Wide ulnar metaphysis Metáfise ulnar larga OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004048 rdfs:label Narrow joint spaces of wrist Espaços articulares do pulso estreitos OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004049 rdfs:label Decreased carpal angles of wrist Diminuição dos ângulos carpais do punho OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004050 rdfs:label Absent hand Mão ausente OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004051 rdfs:label Advanced ossification of the hand bones Ossificação avançada dos ossos da mão OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004052 rdfs:label Delayed ossification of the hand bones Ossificação tardia dos ossos da mão OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004053 rdfs:label Dysharmonic maturation of the hand bones Maturação disarmônica dos ossos da mão OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004054 rdfs:label Sclerosis of hand bone Esclerose do osso da mão OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004057 rdfs:label Mitten deformity Mão em forma de luva de boxe OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004058 rdfs:label Hand monodactyly Monodactilia manual OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004059 rdfs:label Radial club hand Deficiência radial longitudinal OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004060 rdfs:label Trident hand Mão em forma de tridente OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004095 rdfs:label Curved fingers Dedos curvos OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004097 rdfs:label Deviation of finger Desvio do dedo da mão OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004099 rdfs:label Macrodactyly Macrodactilia OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004100 rdfs:label Abnormal 2nd finger morphology Morfologia anormal do 2º dedo da mão OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004112 rdfs:label Midline nasal groove Sulco nasal mediano OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004122 rdfs:label Midline defect of the nose Defeito da linha média do nariz OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004132 rdfs:label Dimple on nasal tip Depressão na ponta do nariz OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004150 rdfs:label Abnormal 3rd finger morphology Morfologia anormal do 3º dedo da mão OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004172 rdfs:label Abnormality of the middle phalanx of the 3rd finger Anomalia da falange média do 3º dedo da mão OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004180 rdfs:label Short distal phalanx of the 3rd finger Falange distal curta do 3º dedo da mão da mão OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004188 rdfs:label Abnormal 4th finger morphology Morfologia anormal do 4º dedo da mão OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004195 rdfs:label Osteolytic defects of the phalanges of the 4th finger Defeitos osteolíticos das falanges do 4º dedo da mão OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004197 rdfs:label Symphalangism of the 4th finger Sinfalangismo do 4º dedo da mão OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004207 rdfs:label Abnormal 5th finger morphology Morfologia anormal do 5º dedo da mão OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004209 rdfs:label Clinodactyly of the 5th finger Clinodactilia do 5º dedo da mão OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004213 rdfs:label Abnormal 5th finger phalanx morphology Morfologia anormal da falange do 5º dedo da mão OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004214 rdfs:label Curved phalanges of the 5th finger Falanges curvas do 5º dedo da mão OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004216 rdfs:label Osteolytic defects of the phalanges of the 5th finger Defeitos osteolíticos das falanges do 5º dedo da mão OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004218 rdfs:label Symphalangism of the 5th finger Sinfalangismo do 5º dedo da mão OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004219 rdfs:label Abnormality of the middle phalanx of the 5th finger Anomalia da falange média do 5º dedo da mão OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004220 rdfs:label Short middle phalanx of the 5th finger Falange média curta do 5º dedo da mão OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004224 rdfs:label Abnormality of the epiphysis of the middle phalanx of the 5th finger Anomalia da epífise da falange média do 5º dedo da mão OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004225 rdfs:label Abnormality of the distal phalanx of the 5th finger Anomalia da falange distal do 5º dedo da mão OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004226 rdfs:label Curved distal phalanx of the 5th finger Falange distal curva do 5º dedo da mão OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004227 rdfs:label Short distal phalanx of the 5th finger Falange distal curta do 5º dedo da mão OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004230 rdfs:label Subluxation of the proximal interphalangeal joint of the little finger Subluxação da articulação interfalângica proximal do dedo mínimo OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004231 rdfs:label Carpal bone aplasia Apalsia dos ossos carpais OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004232 rdfs:label Accessory carpal bones Ossos carpais acessórios OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004233 rdfs:label Advanced ossification of carpal bones Ossificação avançada dos ossos do carpo OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004234 rdfs:label Bone-in-a-bone appearance of carpal bones Ossos do carpo com aparência de osso dentro de osso OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004236 rdfs:label Irregular carpal bones Ossos do carpo irregulares OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004237 rdfs:label Large carpal bones Ossos do carpo grandes OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004238 rdfs:label Lytic defects of carpal bones Defeitos líticos dos ossos do carpo OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004239 rdfs:label Proximally placed carpal bones Ossos do carpo situados proximalmente OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004240 rdfs:label Sclerotic foci within carpal bones Focos escleróticos dentro dos ossos do carpo OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004241 rdfs:label Stippled calcification in carpal bones Calcificação pontilhada nos ossos do carpo OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004242 rdfs:label Broad carpal bones Ossos carpais largos OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004243 rdfs:label Abnormality of the scaphoid Anomalia do osso escafoide OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004244 rdfs:label Accessory scaphoid Osso escafoide acessório OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004245 rdfs:label Comma-shaped scaphoid Escafoide em forma de vírgula OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004246 rdfs:label Delayed ossification of the scaphoid Ossificação tardia do escafoide OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004247 rdfs:label Small scaphoid Osso escafoide pequeno OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004248 rdfs:label Abnormality of the lunate bone Anomalia do osso semilunar OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004249 rdfs:label Accessory lunate Osso semilunar acessório OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004250 rdfs:label Proximally placed lunate Osso semilunar situado proximalmente OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004251 rdfs:label Lunate-triquetral fusion Fusão semilunar-triquetral OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004252 rdfs:label Abnormality of the trapezium Anomalia do osso trapézio OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004253 rdfs:label Absent trapezium Osso trapézio ausente OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004254 rdfs:label Delayed ossification of the trapezium Ossificação tardia do trapézio OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004255 rdfs:label Small trapezium Osso trapézio pequeno OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004256 rdfs:label Abnormality of the trapezoid bone Anomalia do osso trapezoide OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004257 rdfs:label Delayed ossification of the trapezoid bone Ossificação tardia do osso trapézio OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004258 rdfs:label Small trapezoid bone Osso trapezoide pequeno OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004259 rdfs:label Abnormality of the hamate bone Anomalia do osso hamato OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004260 rdfs:label Large hamate bone Osso hamato grande OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004261 rdfs:label Wide hamate bone Osso hamato largo OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004262 rdfs:label Abnormality of the capitate bone Anomalia do osso capitato OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004263 rdfs:label Large capitate bone Osso capitato grande OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004264 rdfs:label Narrow carpal joint spaces Espaços estreitos da articulação do carpo OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004267 rdfs:label Narrow small joints of the hand Pequenas articulações estreitas da mão OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004268 rdfs:label Osteoarthritis of the small joints of the hand Osteoartrite das pequenas articulações da mão OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004269 rdfs:label Subluxation of the small joints of the hand Subluxação das pequenas articulações da mão OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004271 rdfs:label Cortical thickening of hand bones Espessamento cortical dos ossos da mão OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004272 rdfs:label Cortical thinning of hand bones Afinamento cortical dos ossos da mão OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004273 rdfs:label Cupped metaphyses of hand bones Metáfises dos ossos da mão em taça OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004274 rdfs:label Deficient ossification of hand bones Ossificação deficiente dos ossos da mão OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004275 rdfs:label Duplication of hand bones Duplicação dos ossos da mão OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004276 rdfs:label Exostoses of hand bones Exostoses dos ossos das mãos OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004277 rdfs:label Fractured hand bones Ossos das mãos fraturados OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004278 rdfs:label Synostosis involving bones of the hand Sinostose envolvendo ossos da mão OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004279 rdfs:label Short palm Palma curta OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004280 rdfs:label Irregular ossification of hand bones Ossificação irregular dos ossos da mão OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004281 rdfs:label Irregular sclerosis of hand bones Esclerose irregular dos ossos da mão OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004283 rdfs:label Narrow palm Palma estreita OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004284 rdfs:label Notched hand bones Ossos da mão entalhados OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004285 rdfs:label Overmodelled hand bones Ossos da mão sobremodelados OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004286 rdfs:label Patchy sclerosis of hand bones Esclerose focal nos ossos da mão OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004287 rdfs:label Pointed hand bones Ossos da mão pontiagudos OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004288 rdfs:label Pseudoepiphyses of hand bones Pseudoepífises dos ossos da mão OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004289 rdfs:label Sclerotic foci in hand bones Focos escleróticos nos ossos da mão OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004290 rdfs:label Sclerosis of hand bones with transverse striations Esclerose dos ossos da mão com estrias transversais OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004291 rdfs:label Stippled calcification of hand bones Calcificação pontilhada dos ossos da mão OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004292 rdfs:label Undermodelled hand bones Ossos da mão submodelados OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004293 rdfs:label Synostosis of second metacarpal-trapezoid Sinostose do segundo metacarpo-trapezoide OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004294 rdfs:label Subluxation of metacarpal phalangeal joints Subluxação das articulações metacarpo-falangeanas OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004295 rdfs:label Abnormal gastric mucosa morphology Morfologia anormal da mucosa gástrica OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004296 rdfs:label Abnormal gastrointestinal vascular morphology Morfologia vascular gastrointestinal anormal OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004297 rdfs:label Abnormality of the biliary system Anomalia do sistema biliar OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004298 rdfs:label Abnormality of the abdominal wall Anomalia da parede abdominal OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004299 rdfs:label Hernia of the abdominal wall Hérnia da parede abdominal OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004302 rdfs:label Functional motor deficit Déficit motor funcional OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004303 rdfs:label Abnormal muscle fiber morphology Morfologia anormal das fibras musculares OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004305 rdfs:label Involuntary movements Movimentos involuntários OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004306 rdfs:label Abnormal endocardium morphology Morfologia anormal do endocárdio OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004307 rdfs:label Abnormal anatomic location of the heart Localização anatômica anormal do coração OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004308 rdfs:label Ventricular arrhythmia Arritmia ventricular OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004309 rdfs:label Ventricular preexcitation Pré-excitação ventricular OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004311 rdfs:label Abnormal macrophage morphology Morfologia anormal dos macrófagos OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004312 rdfs:label Abnormal reticulocyte morphology Morfologia anormal dos reticulócitos OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004313 rdfs:label Decreased circulating antibody level Diminuição do nível de anticorpos circulantes OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004315 rdfs:label Decreased circulating IgG level Diminuição do nível de IgG circulante OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004319 rdfs:label Decreased circulating aldosterone level Diminuição do nível de aldosterona circulante OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004320 rdfs:label Vaginal fistula Fístula vaginal OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004321 rdfs:label Bladder fistula Fístula vesical OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004322 rdfs:label Short stature Baixa estatura OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004323 rdfs:label Abnormality of body weight Anomalia do peso corporal OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004324 rdfs:label Increased body weight Peso corporal aumentado OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004325 rdfs:label Decreased body weight Peso corporal diminuído OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004326 rdfs:label Cachexia Caquexia OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004327 rdfs:label Abnormal vitreous humor morphology Morfologia anormal do humor vítreo OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004328 rdfs:label Abnormal anterior eye segment morphology Morfologia anormal do segmento anterior do olho OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004329 rdfs:label Abnormal posterior eye segment morphology Morfologia anormal do segmento posterior do olho OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004330 rdfs:label Increased skull ossification Aumento da ossificação do crânio OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004331 rdfs:label Decreased skull ossification Diminuição da ossificação do crânio OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004332 rdfs:label Abnormal lymphocyte morphology Morfologia anormal dos linfócitos OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004333 rdfs:label Bone-marrow foam cells Células espumosas da medula óssea OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004334 rdfs:label Dermal atrophy Atrofia dérmica OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004336 rdfs:label Myelin outfoldings Dobras de mielina OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004337 rdfs:label Abnormality of amino acid metabolism Anomalia do metabolismo de aminoácidos OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004338 rdfs:label Abnormal circulating aromatic amino acid concentration Concentração anormal de aminoácidos aromáticos circulantes OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004339 rdfs:label Abnormal circulating sulfur amino acid concentration Concentração anormal de aminoácidos sulfurados circulantes OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004340 rdfs:label Abnormality of vitamin B metabolism Anomalia do metabolismo da vitamina B OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004341 rdfs:label Abnormality of vitamin B12 metabolism Anomalia do metabolismo da vitamina B12 OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004342 rdfs:label Abnormality of galactoside metabolism Anomalia do metabolismo de galactosídeos OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004343 rdfs:label Abnormal glycosphingolipid metabolism Metabolismo anormal dos glicoesfingolipídios OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004344 rdfs:label Abnormality of cerebrosidase metabolism Anomalia do metabolismo da cerebrosidase OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004345 rdfs:label Ganglioside accumulation Acúmulo de gangliosídeos OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004347 rdfs:label Weakness of muscles of respiration Fraqueza dos músculos respiratórios OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004348 rdfs:label Abnormality of bone mineral density Anomalia da densidade mineral óssea OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004349 rdfs:label Reduced bone mineral density Densidade mineral óssea reduzida OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004352 rdfs:label Abnormal circulating purine concentration Concentração anormal de purina circulante OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004353 rdfs:label Abnormal circulating pyrimidine concentration Concentração anormal de pirimidina circulante OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004354 rdfs:label Abnormal circulating carboxylic acid concentration Concentração anormal de ácido carboxílico circulante OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004356 rdfs:label Abnormality of lysosomal metabolism Anomalia do metabolismo lisossomal OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004357 rdfs:label Abnormal circulating leucine concentration Concentração anormal de leucina circulante OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004358 rdfs:label Abnormality of superoxide metabolism Anomalia do metabolismo do superóxido OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004359 rdfs:label Abnormal circulating fatty-acid concentration Concentração anormal de ácidos graxos circulantes OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004360 rdfs:label Abnormality of acid-base homeostasis Anomalia da homeostase ácido-base OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004361 rdfs:label Abnormal circulating leptin concentration Concentração anormal de leptina circulante OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004362 rdfs:label Abnormal enteric ganglion morphology Morfologia anormal do gânglio entérico OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004363 rdfs:label Abnormal circulating calcium concentration Concentração anormal de cálcio circulante OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004364 rdfs:label Abnormal circulating nitrogen compound concentration Concentração anormal do compostos nitrogenados circulantes OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004365 rdfs:label Abnormal circulating tryptophan concentration Concentração anormal de triptofano circulante OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004366 rdfs:label Abnormality of glycolysis Anomalia da glicólise OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004368 rdfs:label Increased circulating purine concentration Concentração aumentada de purina circulante OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004369 rdfs:label Decreased circulating purine concentration Concentração dimnuída de purina circulante OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004370 rdfs:label Abnormality of temperature regulation Anomalia da regulação de temperatura OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004371 rdfs:label Abnormality of glycosaminoglycan metabolism Anomalia do metabolismo de glicosaminoglicanos OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004372 rdfs:label Reduced consciousness Redução do nível de consciência OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004373 rdfs:label Focal dystonia Distonia focal OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004374 rdfs:label Hemiplegia/hemiparesis Hemiplegia/hemiparesia OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004375 rdfs:label Neoplasm of the nervous system Neoplasia do sistema nervoso OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004376 rdfs:label Neuroblastic tumor Tumor neuroblástico OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004377 rdfs:label Hematological neoplasm Neoplasia hematológica OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004378 rdfs:label Abnormality of the anus Anomalia do ânus OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004379 rdfs:label Abnormality of alkaline phosphatase level Anomalia do nível de fosfatase alcalina OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004380 rdfs:label Aortic valve calcification Calcificação da válvula aórtica OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004381 rdfs:label Supravalvular aortic stenosis Estenose aórtica supravalvar OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004382 rdfs:label Mitral valve calcification Calcificação da valva mitral OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004383 rdfs:label Hypoplastic left heart Coração esquerdo hipoplásico OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004384 rdfs:label Type I truncus arteriosus Truncus arteriosus tipo I OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004385 rdfs:label Protracted diarrhea Diarreia prolongada OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004386 rdfs:label Gastrointestinal inflammation Inflamação gastrointestinal OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004387 rdfs:label Enterocolitis Enterocolite OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004388 rdfs:label Microcolon Microcólon OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004389 rdfs:label Intestinal pseudo-obstruction Pseudo-obstrução intestinal OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004390 rdfs:label Hamartomatous polyposis Polipose hamartomatosa OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004392 rdfs:label Prune belly Abdome em Ameixa Seca OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004394 rdfs:label Multiple gastric polyps Múltiplos pólipos gástricos OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004395 rdfs:label Malnutrition Desnutrição OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004396 rdfs:label Poor appetite Falta de apetite OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004397 rdfs:label Ectopic anus Ânus ectópico OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004398 rdfs:label Peptic ulcer Úlcera péptica OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004400 rdfs:label Abnormality of the pylorus Anomalia do piloro OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004401 rdfs:label Meconium ileus Íleo meconial OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004403 rdfs:label Proximal esophageal atresia Atresia esofágica proximal OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004404 rdfs:label Abnormal nipple morphology Morfologia anormal do mamilo OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004405 rdfs:label Prominent nipples Mamilos proeminentes OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004406 rdfs:label Spontaneous, recurrent epistaxis Epistaxe espontânea e recorrente OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004407 rdfs:label Bony paranasal bossing Protuberância óssea paranasal OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004408 rdfs:label Abnormality of the sense of smell Anomalia do olfato OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004409 rdfs:label Hyposmia Hiposmia OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004411 rdfs:label Deviated nasal septum Desvio do septo nasal OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004414 rdfs:label Abnormality of the pulmonary artery Anomalia da artéria pulmonar OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004415 rdfs:label Pulmonary artery stenosis Estenose da artéria pulmonar OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004416 rdfs:label Precocious atherosclerosis Aterosclerose precoce OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004417 rdfs:label Intermittent claudication Claudicação intermitente OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004418 rdfs:label Thrombophlebitis Tromboflebite OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004419 rdfs:label Recurrent thrombophlebitis Tromboflebite recorrente OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004420 rdfs:label Arterial thrombosis Trombose arterial OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004421 rdfs:label Elevated systolic blood pressure Pressão arterial sistólica elevada OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004422 rdfs:label Biparietal narrowing Estreitamento biparietal OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004423 rdfs:label Cranium bifidum occultum Crânio bífido oculto OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004425 rdfs:label Flat forehead Testa plana OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004426 rdfs:label Abnormal cheek morphology Morfologia anormal da bochecha OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004429 rdfs:label Recurrent viral infections Infecções virais recorrentes OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004430 rdfs:label Severe combined immunodeficiency Imunodeficiência combinada grave OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004431 rdfs:label Reduced circulating complement concentration Concentração reduzida de complemento circulante OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004432 rdfs:label Agammaglobulinemia Agamaglobulinemia OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004433 rdfs:label Secretory IgA deficiency Deficiência de IgA secretora OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004434 rdfs:label Decreased circulating complement C8 concentration Diminuição da concentração de complemento C8 circulante OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004437 rdfs:label Cranial hyperostosis Hiperostose craniana OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004438 rdfs:label Hyperostosis frontalis interna Hiperostose frontal interna OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004439 rdfs:label Craniofacial dysostosis Disostose craniofacial OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004440 rdfs:label Coronal craniosynostosis Craniossinostose coronal OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004442 rdfs:label Sagittal craniosynostosis Craniossinostose sagital OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004443 rdfs:label Lambdoidal craniosynostosis Craniossinostose lambdoidal OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004444 rdfs:label Spherocytosis Esferocitose OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004445 rdfs:label Elliptocytosis Eliptocitose OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004446 rdfs:label Stomatocytosis Estomatocitose OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004447 rdfs:label Poikilocytosis Poiquilocitose OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004448 rdfs:label Fulminant hepatic failure Insuficiência hepática fulminante OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004450 rdfs:label Preauricular skin furrow Sulco cutâneo pré-auricular OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004451 rdfs:label Postauricular skin tag Apêndice cutâneo pós-auricular OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004452 rdfs:label Abnormality of the middle ear ossicles Anomalia dos ossículos da orelha média OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004453 rdfs:label Overfolding of the superior helices Sobredobramento das hélices superiores OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004454 rdfs:label Abnormal middle ear reflexes Reflexos anormais da orelha média OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004458 rdfs:label Dilatated internal auditory canal Canal auditivo interno dilatado OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004459 rdfs:label Exostosis of the external auditory canal Exostose do canal auditivo externo OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004461 rdfs:label Congenital earlobe sinuses Seios pré-auriculares congênitos OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004463 rdfs:label Absent brainstem auditory responses Ausência de respostas auditivas do tronco encefálico OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004464 rdfs:label Postauricular pit Fístula pós-auricular OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004466 rdfs:label Delayed brainstem auditory evoked response conduction time Tempo de condução de resposta evocada auditiva de tronco encefálico atrasado OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004467 rdfs:label Preauricular pit Fístula pré-auricular OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004468 rdfs:label Anomalous tracheal cartilage Cartilagem traqueal anômala OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004469 rdfs:label Chronic bronchitis Bronquite crônica OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004470 rdfs:label Atretic occipital cephalocele Cefalocele occipital atrética OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004471 rdfs:label Aplasia cutis congenita over the scalp vertex Aplasia cutânea congênita sobre o vértice do couro cabeludo OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004472 rdfs:label Mandibular hyperostosis Hiperostose mandibular OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004474 rdfs:label Persistent open anterior fontanelle Fontanela anterior aberta persistente OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004476 rdfs:label Aplasia cutis congenita over parietal area Aplasia cutânea congênita sobre a área parietal OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004481 rdfs:label Progressive macrocephaly Macrocefalia progressiva OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004482 rdfs:label Relative macrocephaly Macrocefalia relativa OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004484 rdfs:label Craniofacial asymmetry Assimetria craniofacial OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004485 rdfs:label Cessation of head growth Cessação do crescimento da cabeça OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004487 rdfs:label Acrobrachycephaly Acrobraquicefalia OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004488 rdfs:label Macrocephaly at birth Macrocefalia ao nascer OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004490 rdfs:label Calvarial hyperostosis Hiperostose calvarial OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004491 rdfs:label Large posterior fontanelle Fontanela posterior grande OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004492 rdfs:label Widely patent fontanelles and sutures Fontanelas e suturas amplamente patentes OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004493 rdfs:label Craniofacial hyperostosis Hiperostose craniofacial OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004499 rdfs:label Chronic rhinitis due to narrow nasal airway Rinite crônica devido a via aérea nasal estreita OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004502 rdfs:label Bilateral choanal atresia Atresia coanal bilateral OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004510 rdfs:label Pancreatic islet-cell hyperplasia Hiperplasia das células das ilhotas pancreáticas OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004523 rdfs:label Long eyebrows Sobrancelhas longas OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004524 rdfs:label Temporal hypotrichosis Hipotricose temporal OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004527 rdfs:label Large clumps of pigment irregularly distributed along hair shaft Grandes aglomerados de pigmento distribuídos irregularmente ao longo da haste capilar OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004528 rdfs:label Generalized hypotrichosis Hipotricose generalizada OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004529 rdfs:label Atrophic, patchy alopecia Alopecia atrófica e irregular OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004532 rdfs:label Sacral hypertrichosis Hipertricose sacral OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004535 rdfs:label Anterior cervical hypertrichosis Hipertricose cervical anterior OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004540 rdfs:label Congenital, generalized hypertrichosis Hipertricose congênita generalizada OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004552 rdfs:label Scarring alopecia of scalp Alopecia cicatricial do couro cabeludo OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004554 rdfs:label Generalized hypertrichosis Hipertricose generalizada OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004557 rdfs:label Anterior vertebral fusion Fusão vertebral anterior OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004558 rdfs:label Cervical platyspondyly Platispondilia cervical OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004562 rdfs:label Beaking of vertebral bodies T12-L3 Protrusão anterior dos corpos vertebrais de T12 a L3 OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004563 rdfs:label Increased spinal bone density Densidade óssea espinhal aumentada OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004565 rdfs:label Severe platyspondyly Platispondilia severa OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004566 rdfs:label Pear-shaped vertebrae Vértebras em forma de pera OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004570 rdfs:label Increased vertebral height Aumento da altura vertebral OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004571 rdfs:label Widening of cervical spinal canal Alargamento do canal cervical OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004575 rdfs:label Fusion of midcervical facet joints Fusão das facetas articulares cervicais médias OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004576 rdfs:label Sclerotic vertebral endplates Placas terminais vertebrais escleróticas OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004581 rdfs:label Increased anterior vertebral height Altura vertebral anterior aumentada OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004582 rdfs:label Irregularity of vertebral bodies Irregularidade dos corpos vertebrais OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004586 rdfs:label Biconcave vertebral bodies Corpos vertebrais bicôncavos OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004589 rdfs:label Dysplasia of second lumbar vertebra Displasia da segunda vértebra lombar OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004590 rdfs:label Hypoplastic sacrum Sacro hipoplásico OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004591 rdfs:label Disc-like vertebral bodies Corpos vertebrais em forma de disco OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004592 rdfs:label Thoracic platyspondyly Platispondilia torácica OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004594 rdfs:label Hump-shaped mound of bone in central and posterior portions of vertebral endplate Protuberância óssea em forma de corcova nas porções central e posterior da placa terminal vertebral OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004598 rdfs:label Supernumerary vertebral ossification centers Centros de ossificação vertebral supranumerários OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004599 rdfs:label Absent or minimally ossified vertebral bodies Corpos vertebrais ausentes ou minimamente ossificados OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004601 rdfs:label Spina bifida occulta at L5 Espinha bífida oculta em L5 OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004602 rdfs:label Cervical C2/C3 vertebral fusion Fusão vertebral cervical C2/C3 OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004603 rdfs:label Hyperconvex vertebral body endplates Placas terminais do corpo vertebral hiperconvexo OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004605 rdfs:label Absent vertebral body mineralization Ausência de mineralização do corpo vertebral OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004606 rdfs:label Unossified vertebral bodies Corpos vertebrais não ossificados OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004608 rdfs:label Anteriorly placed odontoid process Processo odontoide anteriorizado OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004609 rdfs:label Patchy distortion of vertebrae Distorção irregular das vértebras OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004610 rdfs:label Lumbar spinal canal stenosis Estenose do canal vertebral lombar OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004611 rdfs:label Anterior concavity of thoracic vertebrae Concavidade anterior das vértebras torácicas OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004614 rdfs:label Spina bifida occulta at S1 Espinha bífida oculta em S1 OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004616 rdfs:label Cleft vertebral arch Arco vertebral fissurado OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004617 rdfs:label Butterfly vertebral arch Arco vertebral em borboleta OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004619 rdfs:label Lumbar kyphoscoliosis Cifoescoliose lombar OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004621 rdfs:label Enlarged vertebral pedicles Pedículos vertebrais aumentados OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004622 rdfs:label Progressive intervertebral space narrowing Estreitamento progressivo do espaço intervertebral OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004625 rdfs:label Biconvex vertebral bodies Corpos vertebrais biconvexos OFFICIAL orcid:0009-0005-0193-5224 +en pt HP:0004626 rdfs:label Lumbar scoliosis Escoliose lombar OFFICIAL orcid:0009-0005-0193-5224