{"orpha":93441,"name":"Primary bone dysplasia with multiple joint dislocations","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["Primary osteodysplasia with multiple joint dislocations","Primary skeletal dysplasia with multiple joint dislocations"],"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-93441/","orphanet_url":"https://www.orpha.net/en/disease/detail/93441","names":{"fr":{"name":"Dysplasie osseuse primaire avec luxations articulaires multiples","synonyms":["Dysplasie squelettique primaire avec luxations articulaires multiples","Ostéodysplasie primaire avec luxations articulaires multiples"]},"de":{"name":"Primäre Knochendysplasie mit multiplen Gelenkdislokationen","synonyms":["Primäre Osteodysplasie mit multiplen Gelenkdislokationen","Primäre Skelettdysplasie mit multiplen Gelenkdislokationen"]},"es":{"name":"Displasia ósea primaria con luxaciones múltiples","synonyms":["Displasia esquelética primaria con luxaciones múltiples","Osteodisplasia primaria con luxaciones múltiples"]},"it":{"name":"Displasia ossea primitiva con dislocazioni articolari multiple","synonyms":["Displasia scheletrica primitiva con dislocazioni articolari multiple","Osteodisplasia primitiva con dislocazioni articolari multiple"]},"nl":{"name":"Primaire botdysplasie met multipele gewrichtsluxaties","synonyms":["Primaire osteodysplasie met meervoudige gewrichtsluxaties","Primaire skeletdysplasie met meervoudige gewrichtsluxaties"]},"pt":{"name":"Displasia dos ossos com múltiplas luxações articulares"},"pl":{"name":"Dysplazja kości z wielokrotnymi przemieszczeniami w stawach","synonyms":["Primary osteodysplasia with multiple joint dislocations","Primary skeletal dysplasia with multiple joint dislocations"]},"cs":{"name":"Primární kostní dysplázie s mnohočetnými dislokacemi kloubů","synonyms":["Primární osteodysplázie s mnohočetnými dislokacemi kloubů","Primární skeletální dysplázie s mnohočetnými dislokacemi kloubů"]},"uk":{"name":"Первинна дисплазія кісток з множинними вивихами суглобів","synonyms":["Первинна остеодисплазія з множинними вивихами суглобів","Первинна скелетна дисплазія з множинними вивихами суглобів"]},"zh":{"name":"原发性骨发育不良伴多关节脱位","synonyms":["原发性骨发育不良伴多关节脱位"]},"tr":{"name":"Çoklu eklem çıkığı olan primer kemik displazisi","synonyms":["Çoklu eklem çıkığı ile seyreden primer osteodisplazi","Çoklu eklem çıkığı ile seyreden primer iskelet displazisi"]}},"xrefs":[{"source":"ICD-11","code":"LD24.E","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"689620137"},{"source":"UMLS","code":"C5680275","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":1190,"name":"Atelosteogenesis type I","type":"Malformation syndrome"},{"orpha":56305,"name":"Atelosteogenesis type III","type":"Malformation syndrome"},{"orpha":114,"name":"Auriculoosteodysplasia","type":"Malformation syndrome"},{"orpha":1263,"name":"Boomerang dysplasia","type":"Disease"},{"orpha":263463,"name":"CHST3-related skeletal dysplasia","type":"Disease"},{"orpha":280586,"name":"Chondrodysplasia with joint dislocations, gPAPP type","type":"Malformation syndrome"},{"orpha":1508,"name":"Coxoauricular syndrome","type":"Malformation syndrome"},{"orpha":1425,"name":"Desbuquois syndrome","type":"Malformation syndrome"},{"orpha":642085,"name":"EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity","type":"Disease"},{"orpha":503,"name":"Larsen syndrome","type":"Malformation syndrome"},{"orpha":2370,"name":"Larsen-like osseous dysplasia-short stature syndrome","type":"Malformation syndrome"},{"orpha":284139,"name":"Larsen-like syndrome, B3GAT3 type","type":"Malformation syndrome"},{"orpha":2371,"name":"Lethal Larsen-like syndrome","type":"Malformation syndrome"},{"orpha":85174,"name":"Pseudodiastrophic dysplasia","type":"Malformation syndrome"},{"orpha":527450,"name":"Severe myopia-generalized joint laxity-short stature syndrome","type":"Malformation syndrome"},{"orpha":589442,"name":"Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome","type":"Malformation syndrome"},{"orpha":642099,"name":"Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type","type":"Disease"},{"orpha":93360,"name":"Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type","type":"Disease"},{"orpha":438117,"name":"Steel syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}