{"orpha":281244,"name":"Autosomal ichthyosis syndrome with other associated signs","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-281244/","orphanet_url":"https://www.orpha.net/en/disease/detail/281244","names":{"fr":{"name":"Ichtyose syndromique autosomique avec d'autres signes associés"},"de":{"name":"Ichthyose-Syndrom, autosmales, mit weiteren assoziierten Symptomen"},"es":{"name":"Síndrome de ictiosis autosómica con otros signos asociados"},"it":{"name":"Ittiosi sindromica autosomica con altri segni correlati"},"nl":{"name":"Autosomaal ichthyosis-syndroom met andere geassocieerde tekenen"},"pt":{"name":"Síndrome ictiose autossómica com outros sinais associados"},"pl":{"name":"Autosomalny zespół rybiej łuski z innymi objawami towarzyszącymi"},"cs":{"name":"Autozomálně dědičné syndromy s ichtyózou a dalšími přidruženými znaky"},"uk":{"name":"Синдром аутосомного іхтіозу з іншими асоційованими ознаками"},"zh":{"name":"常染色体遗传鱼鳞病综合征伴其他相关体征"},"tr":{"name":"Diğer ilişkili belirtiler ile seyreden otozomal iktiyoz sendromu"}},"xrefs":[{"source":"UMLS","code":"C5681024","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":1376,"name":"OBSOLETE: Congenital cataract-ichthyosis syndrome","status":"inactive"},{"type":"Referred to","orpha":2267,"name":"OBSOLETE: Ichthyosis-cheek-eyebrow syndrome","status":"inactive"}],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":281217,"name":"Autosomal ichthyosis syndrome","classifications":[156,187]}],"children":[{"orpha":404454,"name":"Alacrimia-choreoathetosis-liver dysfunction syndrome","type":"Disease"},{"orpha":91131,"name":"DK1-CDG","type":"Disease"},{"orpha":2274,"name":"Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome","type":"Disease"},{"orpha":2278,"name":"Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome","type":"Malformation syndrome"},{"orpha":2272,"name":"Ichthyosis-oral and digital anomalies syndrome","type":"Malformation syndrome"},{"orpha":88621,"name":"Ichthyosis-prematurity syndrome","type":"Disease"},{"orpha":363992,"name":"Ichthyosis-short stature-brachydactyly-microspherophakia syndrome","type":"Disease"},{"orpha":477,"name":"KID syndrome","type":"Disease"},{"orpha":3151,"name":"Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome","type":"Disease"},{"orpha":98907,"name":"Neutral lipid storage disease with ichthyosis","type":"Disease"},{"orpha":75325,"name":"Osteosclerosis-ichthyosis-premature ovarian failure syndrome","type":"Disease"},{"orpha":3055,"name":"X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}