{"orpha":281222,"name":"Autosomal ichthyosis syndrome with prominent hair abnormalities","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-281222/","orphanet_url":"https://www.orpha.net/en/disease/detail/281222","names":{"fr":{"name":"Ichtyose syndromique autosomique avec anomalie des cheveux prédominante"},"de":{"name":"Ichthyose-Syndrom, autosmales, mit prominenten Haaranomalitäten"},"es":{"name":"Síndrome de ictiosis autosómica con anomalías del cabello predominantes"},"it":{"name":"Ittiosi sindromica autosomica con anomalie prominenti dei capelli"},"nl":{"name":"Autosomaal ichthyosis-syndroom met opvallende haarafwijkingen"},"pt":{"name":"Síndrome ictiose autossómica com anomalias prominentes do cabelo"},"pl":{"name":"Autosomalny zespół rybiej łuski ze znacznymi nieprawidłowościami włosów"},"cs":{"name":"Autozomálně dědičné syndromy s ichtyózou a dominujícími abnormalitami vlasů"},"uk":{"name":"Синдром аутосомного іхтіозу з вираженими аномаліями волосся"},"zh":{"name":"伴有明显毛发异常的常染色体遗传鱼鳞病综合征"},"tr":{"name":"Belirgin kıl anormallikleri ile seyreden otozomal iktiyoz sendromu"}},"xrefs":[{"source":"MONDO","code":"17271","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681027","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":281217,"name":"Autosomal ichthyosis syndrome","classifications":[156,187]}],"children":[{"orpha":91132,"name":"Ichthyosis-hypotrichosis syndrome","type":"Disease"},{"orpha":59303,"name":"Neonatal ichthyosis-sclerosing cholangitis syndrome","type":"Disease"},{"orpha":634,"name":"Netherton syndrome","type":"Disease"},{"orpha":33364,"name":"Trichothiodystrophy","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}