{"orpha":93430,"name":"Multiple metaphyseal dysplasia","type":"Clinical group","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-93430/","orphanet_url":"https://www.orpha.net/en/disease/detail/93430","names":{"fr":{"name":"Dysplasie métaphysaire multiple"},"de":{"name":"Dysplasie, metaphysäre"},"es":{"name":"Displasia metafisaria múltiple"},"it":{"name":"Displasia metafisaria multipla"},"nl":{"name":"Meervoudige metafysaire dysplasie"},"pt":{"name":"Displasia epifisiária múltipla"},"pl":{"name":"Dysplazja wieloprzynasadowa"},"cs":{"name":"Mnohočetné metafyzární dysplázie"},"uk":{"name":"Множинна метафізарна дисплазія"},"zh":{"name":"多干骺端发育不良"},"tr":{"name":"Çoklu metafizer displazi"}},"xrefs":[{"source":"ICD-11","code":"LD24.7","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"717143930"},{"source":"UMLS","code":"C5681610","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":1819,"name":"OBSOLETE: Epimetaphyseal skeletal dysplasia","status":"inactive"},{"type":"Referred to","orpha":90345,"name":"OBSOLETE: Unclassified metaphyseal chondrodysplasia","status":"inactive"}],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":364526,"name":"Primary bone dysplasia","classifications":[147,156,199]}],"children":[{"orpha":175,"name":"Cartilage-hair hypoplasia","type":"Disease"},{"orpha":79106,"name":"Eiken syndrome","type":"Malformation syndrome"},{"orpha":1040,"name":"Metaphyseal anadysplasia","type":"Disease"},{"orpha":33067,"name":"Metaphyseal chondrodysplasia, Jansen type","type":"Disease"},{"orpha":166038,"name":"Metaphyseal chondrodysplasia, Kaitila type","type":"Disease"},{"orpha":1837,"name":"Metaphyseal chondrodysplasia, Rosenberg type","type":"Disease"},{"orpha":174,"name":"Metaphyseal chondrodysplasia, Schmid type","type":"Disease"},{"orpha":2501,"name":"Metaphyseal chondrodysplasia, Spahr type","type":"Disease"},{"orpha":2502,"name":"Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome","type":"Malformation syndrome"},{"orpha":2504,"name":"Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome","type":"Malformation syndrome"},{"orpha":811,"name":"Shwachman-Diamond syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}