{"orpha":79483,"name":"Phakomatosis cesioflammea","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Phakomatosis pigmentovascularis type 2"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-79483/","orphanet_url":"https://www.orpha.net/en/disease/detail/79483","names":{"fr":{"name":"Phacomatose cesioflammea","synonyms":["Phacomatose pigmento-vasculaire type II"]},"de":{"name":"Phakomatosis cesioflammea","synonyms":["Phakomatosis pigmentovascularis Typ II"]},"es":{"name":"Facomatosis cesioflammea","synonyms":["Facomatosis pigmentovascular tipo 2"]},"it":{"name":"Facomatosi cesioflammea","synonyms":["Facomatosi pigmento-vascolare, tipo 2"]},"nl":{"name":"Phakomatosis cesioflammea","synonyms":["Phakomatosis pigmentovascularis type 2"]},"pt":{"name":"Facomatose cesioflammea"},"pl":{"name":"Phakomatosis cesioflammea","synonyms":["Fakomatoza barwnikowo-naczyniowa typu 2"]},"cs":{"name":"Phakomatosis cesioflammea","synonyms":["Phakomatosis pigmentovascularis, typ 2"]},"uk":{"name":"Факоматоз cesioflammea","synonyms":["Пігментно-судинний факоматоз 2 типу"]},"zh":{"name":"色素血管性斑痣性错构瘤病2型","synonyms":["色素血管性斑痣性错构瘤病2型"]},"tr":{"name":"Fakomatozis sesioflammea","synonyms":["Fakomatoz pigmentovasküler tip 2"]}},"xrefs":[{"source":"ICD-10","code":"Q85.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2D.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1624813675"},{"source":"MONDO","code":"0019325","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3838883","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":2875,"name":"Phakomatosis pigmentovascularis","classifications":[147,156,187,189,198]}],"children":[],"genes":[{"symbol":"GNA11","name":"G protein subunit alpha 11","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"26778290[PMID]","hgnc":"4379","ensembl":"ENSG00000088256","omim":"139313","loci":["19p13.3"]},{"symbol":"GNAQ","name":"G protein subunit alpha q","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"26778290[PMID]","hgnc":"4390","ensembl":"ENSG00000156052","omim":"600998","loci":["9q21.2"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}