{"orpha":33364,"name":"Trichothiodystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, syndromic hair shaft abnormality disorder characterized by short, dry, sulfur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-33364/","orphanet_url":"https://www.orpha.net/en/disease/detail/33364","names":{"fr":{"name":"Trichothiodystrophie","definition":"Syndrome rare d'origine génétique avec anomalie de la tige pilaire caractérisée par des cheveux courts, secs, pauvres en soufre et cassants, généralement associée à des signes très variables d'atteinte d'origine neuroectodermique (ichtyose et photosensibilité), et par une déficience intellectuelle."},"de":{"name":"Trichothiodystrophie","definition":"Eine syndromale Form der Haarschaftanomalie, die durch kurzes, trockenes, schwefelarmes, brüchiges Haar gekennzeichnet ist, das in der Regel mit sehr unterschiedlichen neuroektodermalen Manifestationen wie Ichthyose, Lichtempfindlichkeit und Intelligenzminderung einhergeht."},"es":{"name":"Tricotiodistrofia","definition":"Es un trastorno sindrómico, genético y poco frecuente que presenta anomalías en el tallo del cabello, y que está caracterizado por cabello corto, seco, con deficiencia de azufre y quebradizo, generalmente asociado con manifestaciones neuroectodérmicas muy variables, como ictiosis, fotosensibilidad y discapacidad intelectual."},"it":{"name":"Tricotiodistrofia"},"nl":{"name":"Trichothiodystrofie","definition":"Een zeldzame, genetische syndromale aandoening van haarschacht, gekenmerkt door kort, droog, zwavel-deficiënt, broos haar, meestal geassocieerd met zeer variabele neuro-ectodermale manifestaties zoals ichthyosis, lichtgevoeligheid, en intellectuele achterstand."},"pt":{"name":"Tricotiodistrofia","definition":"Doença rara, genética e sindrómica da haste capilar, caracterizada por cabelos curtos, secos, com deficiência de enxofre e quebradiços, geralmente associados a manifestações neuroectodérmicas altamente variáveis, como ictiose, fotossensibilidade e perturbação do desenvolvimento intelectual."},"pl":{"name":"Trichotiodystrofia"},"cs":{"name":"Trichothiodystrofie"},"uk":{"name":"Трихотіодистрофія","definition":"A rare, genetic, syndromic hair shaft abnormality disorder characterized by short, dry, sulfur-deficient, brittle hair usually associated with highly variable neuroectodermal manifestations, such as ichthyosis, photosensitivity, and intellectual disability."},"zh":{"name":"毛发低硫营养不良"},"tr":{"name":"Trikotiyodistrofide"}},"xrefs":[{"source":"OMIM","code":"234050","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"300953","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"601675","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616390","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616395","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616943","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618546","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618891","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619691","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619692","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"L67.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC21.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1366758649"},{"source":"MONDO","code":"0018053","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D054463","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1955934","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12109","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10044628","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved 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defect during embryogenesis"},"parents":[{"orpha":281222,"name":"Autosomal ichthyosis syndrome with prominent hair abnormalities","classifications":[156,187]},{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":399771,"name":"Male infertility due to sperm disorder","classifications":[156,201]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]},{"orpha":79367,"name":"Syndromic hair shaft abnormality","classifications":[156,187]}],"children":[],"genes":[{"symbol":"AARS1","name":"alanyl-tRNA synthetase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) 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