{"orpha":2499,"name":"Metachondromatosis","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2499/","orphanet_url":"https://www.orpha.net/en/disease/detail/2499","names":{"fr":{"name":"Métachondromatose","definition":"La métachondromatose (MC) est une maladie rare caractérisée par la présence de multiples chondromes et ostéochondromes."},"de":{"name":"Metachondromatose","definition":"Die Metachondromatose (MC) ist eine seltene Krankheit und gekennzeichnet durch multiple Enchondrome und Osteochondrom-ähnliche Läsionen."},"es":{"name":"Metacondromatosis","definition":"La metacondromatosis (MC) es un trastorno raro caracterizado por la presencia de múltiples encondromas y lesiones similares a osteocondroma."},"it":{"name":"Metacondromatosi","definition":"La metacondromatosi (MC) è una malattia rara caratterizzata dalla presenza di encondromi multipli e di lesioni simili agli osteocondromi."},"nl":{"name":"Metachondromatose","definition":"Metachondromatose (MC) is een zeldzame stoornis gekenmerkt door de aanwezigheid van zowel multipele enchondromen als osteochondroomachtige laesies."},"pt":{"name":"Metacondromatose","definition":"A metacondromatose (MC) é uma patologia rara caracterizada pela presença de múltiplos encondromas e lesões do tipo osteocondroma."},"pl":{"name":"Metachondromatoza"},"cs":{"name":"Metachondromatóza"},"uk":{"name":"Метахондроматоз","definition":"Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions."},"zh":{"name":"混合性软骨瘤病"},"tr":{"name":"Metakondromatoz"}},"xrefs":[{"source":"OMIM","code":"156250","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1342578560"},{"source":"MONDO","code":"0007979","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562938","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0410530","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3560","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93450,"name":"Primary bone dysplasia with disorganized development of skeletal components","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"PTPN11","name":"protein tyrosine phosphatase non-receptor type 11","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21533187[PMID]","hgnc":"9644","ensembl":"ENSG00000179295","omim":"176876","loci":["12q24.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":25.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-12-11","source":null,"terms":[{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010885","label":"Avascular necrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100777","label":"Exostoses","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005701","label":"Multiple enchondromatosis","frequency":"Very frequent (99-80%)","criteria":null}]}}