{"orpha":3123,"name":"Brittle hair syndrome, Sabinas type","type":"Malformation syndrome","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["Brittle hair-mental deficiency syndrome","Trichothiodystrophy type B"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Trichothiodystrophy","url":"https://raremap.alftech.space/d/ORPHA-3123/","orphanet_url":"https://www.orpha.net/en/disease/detail/3123","names":{"fr":{"name":"Syndrome de Sabinas","synonyms":["Syndrome de cheveux cassants-déficience intellectuelle","Trichothiodystrophie type B"]},"de":{"name":"Sabinas-Brittle hair-Syndrom","synonyms":["Trichothiodystrophie Typ B","Sprödes Haar-Intelligenzminderung-Syndrom"]},"es":{"name":"Síndrome del cabello quebradizo, tipo Sabinas","synonyms":["Cabello quebradizo-discapacidad intelectual"]},"it":{"name":"Sindrome dei capelli fragili, tipo Sabinas","synonyms":["Capelli fragili - ritardo mentale","Tricotiodistrofia, tipo B"]},"nl":{"name":"Broos haar syndroom, Sabinas-type","synonyms":["Broos haar - intellectuele achterstand","Broos haar - mentale deficiëntie","Broos haar - mentale retardatie","Trichothiodystrofie type B"]},"pt":{"name":"Síndrome cabelo quebradiço, tipo Sabinas","synonyms":["Síndrome de cabelo quebradiço-perturbação do desenvolvimento intelectual","Tricotiodistrofia tipo B"]},"pl":{"name":"Zespół łamliwych włosów typu Sabinasa","synonyms":["Łamliwe włosy - niedorozwój umysłowy","Trichotiodystrofia typu B"]},"cs":{"name":"Syndrom křehkých vlasů, sabinaský typ","synonyms":["Trichothiodystrofie, typ B","Syndrom zahrnující křehké vlasy a mentální retardaci"]},"uk":{"name":"Синдром ламкості волосся, тип Сабінаса","synonyms":["Синдром ламкості волосся та розумової відсталості","Трихотіодистрофія типу В"]},"zh":{"name":"Brittle hair综合征, Sabinas亚型","synonyms":["脆发-精神发育迟缓综合征"]},"tr":{"name":"Kırılgan saç sendromu, Sabinas tipi","synonyms":["Trikotiyodistrofi tip B","Kırılgan saç-zihinsel yetersizlik sendromu"]}},"xrefs":[{"source":"OMIM","code":"211390","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536320","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796271","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":33364,"name":"Trichothiodystrophy"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}