{"orpha":687738,"name":"Single-system multifocal Langerhans cell histiocytosis","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Single-system multifocal Langerhans cell granulomatosis","Single-system multifocal histiocytosis X"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-687738/","orphanet_url":"https://www.orpha.net/en/disease/detail/687738","names":{"fr":{"name":"Histiocytose langerhansienne, mono-systémique multifocale","synonyms":["Histiocytose X mono-systémique multifocal"]},"de":{"name":"Langerhans-Zell-Histiozytose, monosystemische multifokale","synonyms":["Histiozytose X, monosystemische","Langerhans-Zell-Granulomatose, monosystemische multifokale"]},"es":{"name":"Histiocitosis de células de Langerhans monosistémica multifocal","synonyms":["Granulomatosis de células de Langerhans monosistémica multifocal","Histiocitosis X monosistémica multifocal"]},"it":{"name":"Single-system multifocal Langerhans cell histiocytosis"},"nl":{"name":"Unisystemische multifocale langerhanscelhistiocytose","synonyms":["Unisystemische multifocale histiocytose X","Unisystemische multifocale langerhanscelgranulomatose"]},"pt":{"name":"Histiocitose de células Langerhans multifocal unissistémica","synonyms":["Granulomatose de células Langerhans multifocal unissistémica","Histiocitose X multifocal unissistémica"]},"pl":{"name":"Jednoukładowa wieloogniskowa histiocytoza z komórek Langerhansa","synonyms":["Single-system multifocal Langerhans cell granulomatosis","Single-system multifocal histiocytosis X"]},"cs":{"name":"Jednosystémová multifokální histiocytóza z Langerhansových buněk","synonyms":["Single-system multifocal Langerhans cell granulomatosis","Single-system multifocal histiocytosis X"]}},"xrefs":[{"source":"ICD-10","code":"C96.5","qualifier":"E","icd_relation":"specific","validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":389,"name":"Langerhans cell histiocytosis","classifications":[184,194,196,202,233]}],"children":[],"genes":[{"symbol":"BRAF","name":"B-Raf proto-oncogene, serine/threonine kinase","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"22996177[PMID]","hgnc":"1097","ensembl":"ENSG00000157764","omim":"164757","loci":["7q34"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}