{"orpha":296,"name":"Ollier disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Enchondromatosis Spranger type I","Multiple Enchondromatosis type I","Multiple Enchondromatosis, Ollier type"],"definition":"A rare primary bone dysplasia characterized by multiple enchondromas (benign cartilage-forming tumors). The lesions are generally unilateral or asymmetrically distributed. The most common affected site is the appendicular skeleton.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-296/","orphanet_url":"https://www.orpha.net/en/disease/detail/296","names":{"fr":{"name":"Maladie d'Ollier","synonyms":["Hémichondrodystrophie type Ollier"],"definition":"Dysplasie osseuse primaire rare caractérisée par de multiples enchondromes (tumeurs cartilagineuses bénignes). Les lésions sont généralement unilatérales ou réparties de manière asymétrique. La localisation la plus fréquente est le squelette appendiculaire."},"de":{"name":"Ollier-Krankheit","synonyms":["Dyschondroplasie"],"definition":"Eine seltene primäre Knochendysplasie, die durch multiple Enchondrome (gutartige knorpelbildende Tumore) gekennzeichnet ist. Die Läsionen sind im Allgemeinen unilateral oder asymmetrisch verteilt. Die häufigste betroffene Stelle ist das appendikuläre Skelett."},"es":{"name":"Enfermedad de Ollier","synonyms":["Discondroplasia"],"definition":"Es una displasia ósea primaria poco frecuente caracterizada por múltiples encondromas (tumores benignos formadores de cartílago). Las lesiones son generalmente unilaterales o están asimétricamente distribuidas. La localización más frecuente es el esqueleto apendicular."},"it":{"name":"Encondromatosi","synonyms":["Discondroplasia","Malattia di Maffucci","Malattia di Ollier"],"definition":"L'encondromatosi è una displasia scheletrica primitiva rara, caratterizzata da encondromi multipli, per lo più monolaterali o distribuiti in modo asimmetrico lungo le metafisi delle ossa lunghe."},"nl":{"name":"Ziekte van Ollier","synonyms":["Dyschondroplasie"],"definition":"Een zeldzame primaire botdysplasie, gekenmerkt door multipele enchondromen (goedaardige tumoren die kraakbeen vormen). De laesies zijn doorgaans unilateraal of asymmetrisch verdeeld. Appendiculair skelet wordt het vaakst aangetast."},"pt":{"name":"Doença Ollier","synonyms":["Discondroplasia"],"definition":"Displasia óssea primária rara caracterizada por múltiplos encondromas (tumores benignos formadores de cartilagem). As lesões são geralmente unilaterais ou distribuídas assimetricamente. O esqueleto apendicular é habitualmente o local mais afetado."},"pl":{"name":"Choroba Olliera","synonyms":["Choroba Olliera","Dyschondroplazja"]},"cs":{"name":"Enchondromatóza","synonyms":["Dyschondroplázie","Olliérova choroba"]},"uk":{"name":"Хвороба Ольє","synonyms":["Енхондроматоз Шпрангера тип I","Множинний енхондроматоз I типу","Множинний енхондроматоз, тип Ольє"],"definition":"A rare primary bone dysplasia characterized by multiple enchondromas (benign cartilage-forming tumors). The lesions are generally unilateral or asymmetrically distributed. The most common affected site is the appendicular skeleton."},"zh":{"name":"内生软骨瘤","synonyms":["软骨发育不良"]},"tr":{"name":"Ollier hastalığı","synonyms":["Diskondroplazi"]}},"xrefs":[{"source":"OMIM","code":"166000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.4","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"2E83.Z","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1341485804"},{"source":"MONDO","code":"0008145","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D004687","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0014084","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7251","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10014642","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":183527,"name":"Genetic bone tumor","classifications":[156]},{"orpha":140162,"name":"Inherited cancer-predisposing syndrome","classifications":[156,202]},{"orpha":98196,"name":"Malformation syndrome with hamartosis","classifications":[147,156]},{"orpha":93460,"name":"Overgrowth syndrome","classifications":[147,156]},{"orpha":93450,"name":"Primary bone dysplasia with disorganized development of skeletal components","classifications":[147,156,199]},{"orpha":68411,"name":"Rare bone tumor","classifications":[199,202]}],"children":[],"genes":[{"symbol":"PTH1R","name":"parathyroid hormone 1 receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"11850620[PMID]_18559376[PMID]","hgnc":"9608","ensembl":"ENSG00000160801","omim":"168468","loci":["3p21.31"]},{"symbol":"IDH1","name":"isocitrate dehydrogenase (NADP(+)) 1","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"22057236[PMID]_22057234[PMID]","hgnc":"5382","ensembl":"ENSG00000138413","omim":"147700","loci":["2q34"]},{"symbol":"IDH2","name":"isocitrate dehydrogenase (NADP(+)) 2","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"22057236[PMID]_22057234[PMID]","hgnc":"5383","ensembl":"ENSG00000182054","omim":"147650","loci":["15q26.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Europe","status":"Validated","source":"16995932[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-10-18","source":"26091223[PMID]_16995932[PMID]_30872199[PMID]","terms":[{"hpo":"HP:0002763","label":"Abnormal cartilage morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001028","label":"Hemangioma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005701","label":"Multiple enchondromatosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002797","label":"Osteolysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100761","label":"Visceral angiomatosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006765","label":"Chondrosarcoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002967","label":"Cubitus valgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002970","label":"Genu varum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100559","label":"Lower limb asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100764","label":"Lymphangioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003067","label":"Madelung deformity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002756","label":"Pathologic fracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100242","label":"Sarcoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100560","label":"Upper limb asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004936","label":"Venous thrombosis","frequency":"Occasional (29-5%)","criteria":null}]}}