{"orpha":79484,"name":"Phakomatosis cesiomarmorata","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Phakomatosis pigmentovascularis type 5"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-79484/","orphanet_url":"https://www.orpha.net/en/disease/detail/79484","names":{"fr":{"name":"Phacomatose cesiomarmorata","synonyms":["Phacomatose pigmento-vasculaire type V"]},"de":{"name":"Phakomatosis cesiomarmorata","synonyms":["Phakomatosis pigmentovascularis Typ V"]},"es":{"name":"Facomatosis cesiomarmorata","synonyms":["Facomatosis pigmentovascular tipo 5"]},"it":{"name":"Facomatosi cesiomarmorata","synonyms":["Facomatosi pigmento-vascolare, tipo 5"]},"nl":{"name":"Phakomatosis cesiomarmorata","synonyms":["Phakomatosis pigmentovascularis type 5"]},"pt":{"name":"Facomatose cesiomarmorata"},"pl":{"name":"Phakomatosis cesiomarmorata","synonyms":["Fakomatoza barwnikowo-naczyniowa typu 5"]},"cs":{"name":"Phakomatosis cesiomarmorata","synonyms":["Phakomatosis pigmentovascularis, typ 5"]},"uk":{"name":"Факоматоз cesiomarmorata","synonyms":["Факоматоз пігментно-судинний, тип 5"]},"zh":{"name":"色素血管性斑痣性错构瘤病5型","synonyms":["色素血管性斑痣性错构瘤病5型"]},"tr":{"name":"Fakomatozis sesiomarmorata","synonyms":["Fakomatoz pigmentovasküler tip 5"]}},"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":"1039607440"},{"source":"MONDO","code":"0019326","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3839296","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"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}