{"orpha":281097,"name":"Autosomal recessive congenital ichthyosis","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["ARCI"],"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-281097/","orphanet_url":"https://www.orpha.net/en/disease/detail/281097","names":{"fr":{"name":"Ichtyose congénitale autosomique récessive","synonyms":["ARCI"]},"de":{"name":"Ichthyose, autosomal-rezessive kongenitale","synonyms":["ARCI"]},"es":{"name":"Ictiosis congénita autosómica recesiva","synonyms":["ICAR"]},"it":{"name":"Ittiosi congenita autosomica recessiva","synonyms":["ARCI"]},"nl":{"name":"Autosomaal recessieve congenitale ichthyosis","synonyms":["ARCI"]},"pt":{"name":"Ictiose congénita autossómica recessiva","synonyms":["ARCI"]},"pl":{"name":"Autosomalna recesywna rybia łuska wrodzona","synonyms":["ARCI"]},"cs":{"name":"Autozomálně recesivní vrozené ichtyózy","synonyms":["ARCI"]},"uk":{"name":"Аутосомно-рецесивний вроджений іхтіоз","synonyms":["ARCI"]},"zh":{"name":"常染色体隐性遗传性先天性鱼鳞病","synonyms":["ARCI"]},"tr":{"name":"Otozomal resesif doğumsal iktiyoz","synonyms":["ARCI"]}},"xrefs":[{"source":"ICD-11","code":"EC20.02","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"430849255"},{"source":"MONDO","code":"0017265","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17265","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1274215","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":281082,"name":"Inherited non-syndromic ichthyosis","classifications":[156,187]},{"orpha":98571,"name":"Secondary ectropion","classifications":[147,156,189]}],"children":[{"orpha":281127,"name":"Acral self-healing collodion baby","type":"Disease"},{"orpha":100976,"name":"Bathing suit ichthyosis","type":"Disease"},{"orpha":79394,"name":"Congenital ichthyosiform erythroderma","type":"Disease"},{"orpha":289586,"name":"Exfoliative ichthyosis","type":"Disease"},{"orpha":457,"name":"Harlequin ichthyosis","type":"Disease"},{"orpha":313,"name":"Lamellar ichthyosis","type":"Disease"},{"orpha":281122,"name":"Self-improving collodion baby","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"United States","status":"Not yet validated","source":"20301593[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Europe","status":"Validated","source":"8006437[PMID]_European Medicines Agency 2012[OTHER]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.77,"area":"Spain","status":"Not yet validated","source":"22000705[PMID]_21668430[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.1,"area":"Norway","status":"Validated","source":"9887377[PMID]"}],"phenotypes":null}