{"orpha":93276,"name":"Polyostotic fibrous dysplasia","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Fibrous dysplasia of bone","url":"https://raremap.alftech.space/d/ORPHA-93276/","orphanet_url":"https://www.orpha.net/en/disease/detail/93276","names":{"fr":{"name":"Dysplasie fibreuse polyostotique"},"de":{"name":"Knochendysplasie, fibröse polyostotische"},"es":{"name":"Displasia fibrosa poliostótica"},"it":{"name":"Displasia fibrosa poliostotica"},"nl":{"name":"Polyostotische fibreuze dysplasie"},"pt":{"name":"Displasia fibrosa poliostótica"},"pl":{"name":"Dysplazja włóknista wieloogniskowa"},"cs":{"name":"Polyostotická forma fibrózní dysplázie kostí"},"uk":{"name":"Поліостозна фіброзна дисплазія"},"zh":{"name":"多骨纤维异常增殖症"},"tr":{"name":"Poliostotik fibröz displazi"}},"xrefs":[{"source":"ICD-10","code":"Q78.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"FB80.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"771587091"},{"source":"MONDO","code":"0008274","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D005359","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0016065","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4213","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10036120","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":249,"name":"Fibrous dysplasia of bone","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"GNAS","name":"GNAS complex locus","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"10535539[PMID]_10646121[PMID]","hgnc":"4392","ensembl":"ENSG00000087460","omim":"139320","loci":["20q13.32"]}],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":[],"prevalence":[],"phenotypes":null}