{"orpha":281241,"name":"Autosomal ichthyosis syndrome with fatal disease course","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-281241/","orphanet_url":"https://www.orpha.net/en/disease/detail/281241","names":{"fr":{"name":"Ichtyose syndromique autosomique avec évolution fatale de la maladie"},"de":{"name":"Ichthyose-Syndrom, autosmales, mit fatalem Krankheitsverlauf"},"es":{"name":"Síndrome de ictiosis autosómica con enfermedad de curso fatal"},"it":{"name":"Ittiosi sindromica autosomica con decorso fatale della malattia"},"nl":{"name":"Autosomaal ichthyosis-syndroom met fataal ziekteverloop"},"pt":{"name":"Síndrome ictiose autossómica com doença de curso fatal"},"pl":{"name":"Autosomalny zespół rybiej łuski ze śmiertelnym przebiegiem choroby"},"cs":{"name":"Autozomálně dědičné syndromy s ichtyózou a fatálním průběhem"},"uk":{"name":"Синдром аутосомного іхтіозу з фатальним перебігом захворювання"},"zh":{"name":"伴有致命性病程的常染色体遗传鱼鳞病综合征"},"tr":{"name":"Fatal hastalık seyri ile seyredenotozomal iktiyoz sendromu"}},"xrefs":[{"source":"MONDO","code":"17273","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681026","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":2697,"name":"Arthrogryposis-renal dysfunction-cholestasis syndrome","type":"Malformation syndrome"},{"orpha":66631,"name":"CEDNIK syndrome","type":"Disease"},{"orpha":85212,"name":"Fetal Gaucher disease","type":"Clinical subtype"},{"orpha":585,"name":"Multiple sulfatase deficiency","type":"Disease"},{"orpha":2671,"name":"Neu-Laxova syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}