{"orpha":93429,"name":"Multiple epiphyseal dysplasia and pseudoachondroplasia","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-93429/","orphanet_url":"https://www.orpha.net/en/disease/detail/93429","names":{"fr":{"name":"Dysplasie multi-épiphysaire et pseudoachondroplasie"},"de":{"name":"Dysplasie, epiphysäre multiple, mit Pseudoachondroplasie"},"es":{"name":"Displasia epifisaria múltiple y pseudoacondroplasia"},"it":{"name":"Displasia epifisaria multipla e pseudoacondroplasia"},"nl":{"name":"Multipele epifysaire dysplasie en pseudoachondroplasie","synonyms":["Meervoudige epifysaire dysplasie en pseudoachondroplasie"]},"pt":{"name":"Displasia epifisiária múltipla e pseudoacondroplasia"},"pl":{"name":"Dysplazja wielonasadowa i pseudoachondroplazja"},"cs":{"name":"Mnohočetné epifyzární dysplázie a pseudoachondroplázie"},"uk":{"name":"Множинна епіфізарна дисплазія та псевдоахондроплазія"},"zh":{"name":"多发性骨骺发育不良伴假性软骨发育不全"},"tr":{"name":"Çoklu epifizeal displazi ve psödoakondroplazi"}},"xrefs":[{"source":"ICD-11","code":"LD24.6","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2078345611"},{"source":"UMLS","code":"C5681609","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":364526,"name":"Primary bone dysplasia","classifications":[147,156,199]}],"children":[{"orpha":250984,"name":"Autosomal recessive Stickler syndrome","type":"Clinical subtype"},{"orpha":1824,"name":"Lowry-Wood syndrome","type":"Disease"},{"orpha":251,"name":"Multiple epiphyseal dysplasia","type":"Clinical group"},{"orpha":750,"name":"Pseudoachondroplasia","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}