{"orpha":281085,"name":"Inherited ichthyosis syndromic form","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-281085/","orphanet_url":"https://www.orpha.net/en/disease/detail/281085","names":{"fr":{"name":"Ichtyose héréditaire syndromique"},"de":{"name":"Ichthyose, hereditäre, syndromale Form"},"es":{"name":"Ictiosis hereditaria sindrómica"},"it":{"name":"Ittiosi ereditaria, forma sindromica"},"nl":{"name":"Overgeërfde ichthyosis syndromale vorm"},"pt":{"name":"Ictiose hereditária forma sindromática"},"pl":{"name":"Dziedziczna rybia łuska postać syndromiczna"},"cs":{"name":"Dědičné syndromické ichtyózy"},"uk":{"name":"Синдромна форма спадкового іхтіозу"},"zh":{"name":"遗传性鱼鳞病综合征"},"tr":{"name":"Kalıtsal iktiyoz sendromik formu"}},"xrefs":[{"source":"ICD-11","code":"LD27.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"488102959"},{"source":"MONDO","code":"17263","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681019","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":98697,"name":"OBSOLETE: Genetic keratinization disorder associated with ocular features","status":"inactive"},{"type":"Referred to","orpha":98698,"name":"OBSOLETE: Ichthyosis associated with ocular features","status":"inactive"},{"type":"Referred to","orpha":98699,"name":"OBSOLETE: Syndromic ichthyosis associated with ocular features","status":"inactive"}],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":183435,"name":"Inherited ichthyosis","classifications":[156,187]}],"children":[{"orpha":281217,"name":"Autosomal ichthyosis syndrome","type":"Category"},{"orpha":281210,"name":"X-linked ichthyosis syndrome","type":"Clinical group"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.19,"area":"France","status":"Not yet validated","source":"24393603[PMID]"}],"phenotypes":null}