{"orpha":79485,"name":"Phakomatosis spilorosea","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Phakomatosis pigmentovascularis type 3"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-79485/","orphanet_url":"https://www.orpha.net/en/disease/detail/79485","names":{"fr":{"name":"Phacomatose spilorosea","synonyms":["Phacomatose pigmento-vasculaire type III"]},"de":{"name":"Phakomatosis spilorosea","synonyms":["Phakomatosis pigmentovascularis Typ III"]},"es":{"name":"Facomatosis spilorosea","synonyms":["Facomatosis pigmentovascular tipo 3"]},"it":{"name":"Facomatosi spilorosea","synonyms":["Facomatosi pigmento-vascolare, tipo 3"]},"nl":{"name":"Phakomatosis spilorosea","synonyms":["Phakomatosis pigmentovascularis type 3"]},"pt":{"name":"Facomatose spilorosea"},"pl":{"name":"Fakomatoza barwnikowo-naczyniowa","synonyms":["Fakomatoza barwnikowo-naczyniowa typu 3"]},"cs":{"name":"Phakomatosis spilorosea","synonyms":["Phakomatosis pigmentovascularis, typ 3"]},"uk":{"name":"Факоматоз спілороза","synonyms":["Факоматоз пігментно-судинний, тип 3"]},"zh":{"name":"色素血管性斑痣性错构瘤病3型","synonyms":["色素血管性斑痣性错构瘤病3型"]},"tr":{"name":"Fakomatoz spilorosea","synonyms":["Fakomatoz pigmentovasküler tip 3"]}},"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":"1064958823"},{"source":"MONDO","code":"0019327","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3839763","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":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}