{"orpha":93277,"name":"Monostotic fibrous dysplasia","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Jaffe-Lichtenstein disease"],"definition":null,"note":"This disease is described under Fibrous dysplasia of bone","url":"https://raremap.alftech.space/d/ORPHA-93277/","orphanet_url":"https://www.orpha.net/en/disease/detail/93277","names":{"fr":{"name":"Dysplasie fibreuse monostotique","synonyms":["Maladie de Jaffe-Lichtenstein"]},"de":{"name":"Monostotische fibröse Dysplasie","synonyms":["Jaffe-Lichtenstein-Syndrom"]},"es":{"name":"Displasia fibrosa monostótica","synonyms":["Enfermedad de Jaffe-Lichtenstein"]},"it":{"name":"Displasia fibrosa monostotica","synonyms":["Malattia di Jaffe-Lichtenstein"]},"nl":{"name":"Monostotische fibreuze dysplasie","synonyms":["Ziekte van Jaffe-Lichtenstein"]},"pt":{"name":"Displasia fibrosa monostótica"},"pl":{"name":"Dysplazja włóknista jednoogniskowa","synonyms":["Choroba Jaffe'a i Lichtensteina"]},"cs":{"name":"Monoostotická forma fibrózní dysplázie kostí","synonyms":["Jaffé-Lichtensteinova nemoc"]},"uk":{"name":"Моностотична фіброзна дисплазія","synonyms":["Хвороба Яффе-Ліхтенштейна"]},"zh":{"name":"单骨纤维异常增殖症","synonyms":["Jaffe-Lichtenstein病"]},"tr":{"name":"Monostotik fibröz displazi","synonyms":["Jaffe-Lichtenstein hastalığı"]}},"xrefs":[{"source":"ICD-10","code":"M85.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"FB80.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1033883899"},{"source":"MONDO","code":"0019665","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D005358","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0016064","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":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}