{"orpha":93438,"name":"Mesomelic and rhizo-mesomelic 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-93438/","orphanet_url":"https://www.orpha.net/en/disease/detail/93438","names":{"fr":{"name":"Dysplasie mésomélique et rhizo-mésomélique"},"de":{"name":"Dysplasie, mesomele und rhizo-mesomele"},"es":{"name":"Displasia mesomélica y rizo-mesomélica"},"it":{"name":"Displasia mesomelica e rizo-mesomelica"},"nl":{"name":"Mesomele en rhizo-mesomele dysplasie"},"pt":{"name":"Displasia mesomélica e rizo-mesomélica"},"pl":{"name":"Dysplazja mezomeliczna i rizomezomeliczna"},"cs":{"name":"Mezomelické a rhizomezomelické dysplázie"},"uk":{"name":"Мезомелічна та ризомезомелічна дисплазія"},"zh":{"name":"肢中和肢中根骨发育不良"},"tr":{"name":"Mezomelik ve rizo-mezomelik displazi"}},"xrefs":[{"source":"ICD-11","code":"LD24.A","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"533702276"},{"source":"UMLS","code":"C5681611","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":1765,"name":"OBSOLETE: Dyschondrosteosis-nephritis syndrome","status":"inactive"}],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":364526,"name":"Primary bone dysplasia","classifications":[147,156,199]}],"children":[{"orpha":56304,"name":"Atelosteogenesis type II","type":"Malformation syndrome"},{"orpha":440354,"name":"Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome","type":"Malformation syndrome"},{"orpha":1453,"name":"Cleidorhizomelic syndrome","type":"Malformation syndrome"},{"orpha":424099,"name":"Colobomatous microphthalmia-rhizomelic dysplasia syndrome","type":"Malformation syndrome"},{"orpha":611223,"name":"EN1-related dorsoventral syndrome","type":"Malformation syndrome"},{"orpha":2021,"name":"Fibrochondrogenesis","type":"Disease"},{"orpha":2632,"name":"Langer mesomelic dysplasia","type":"Malformation syndrome"},{"orpha":240,"name":"Léri-Weill dyschondrosteosis","type":"Malformation syndrome"},{"orpha":2634,"name":"Mesomelic dwarfism, Reinhardt-Pfeiffer type","type":"Malformation syndrome"},{"orpha":2631,"name":"Mesomelic dwarfism-cleft palate-camptodactyly syndrome","type":"Malformation syndrome"},{"orpha":1836,"name":"Mesomelic dysplasia, Kantaputra type","type":"Malformation syndrome"},{"orpha":2633,"name":"Mesomelic dysplasia, Nievergelt type","type":"Malformation syndrome"},{"orpha":85170,"name":"Mesomelic dysplasia, Savarirayan type","type":"Malformation syndrome"},{"orpha":632603,"name":"Mesomelic dysplasia-digital anomalies-intellectual disability syndrome","type":"Malformation syndrome"},{"orpha":2733,"name":"Omodysplasia","type":"Malformation syndrome"},{"orpha":580940,"name":"QRICH1-related intellectual disability-chondrodysplasia syndrome","type":"Malformation syndrome"},{"orpha":2831,"name":"Rhizomelic dysplasia, Patterson-Lowry type","type":"Malformation syndrome"},{"orpha":3098,"name":"Rhizomelic syndrome, Urbach type","type":"Malformation syndrome"},{"orpha":97360,"name":"Robinow syndrome","type":"Malformation syndrome"},{"orpha":314795,"name":"SHOX-related short stature","type":"Disease"},{"orpha":397623,"name":"Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome","type":"Malformation syndrome"},{"orpha":2497,"name":"Upper limb mesomelic dysplasia, type Fryns","type":"Malformation syndrome"},{"orpha":163966,"name":"X-linked dominant chondrodysplasia, Chassaing-Lacombe type","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}