{"orpha":364526,"name":"Primary bone dysplasia","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Primary osteodysplasia","Primary skeletal dysplasia"],"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-364526/","orphanet_url":"https://www.orpha.net/en/disease/detail/364526","names":{"fr":{"name":"Dysplasie osseuse primaire","synonyms":["Dysplasie squelettique primaire","Ostéodysplasie primaire"]},"de":{"name":"Knochendysplasie, primäre","synonyms":["Osteodysplasie, primäre","Primäre Skelettdysplasie"]},"es":{"name":"Displasia ósea primaria","synonyms":["Displasia esquelética primaria","Osteodisplasia primaria"]},"it":{"name":"Displasia ossea primitiva","synonyms":["Displasia scheletrica primitiva","Osteodisplasia primitiva"]},"nl":{"name":"Primaire botdysplasie","synonyms":["Primaire osteodysplasie","Primaire skeletdysplasie"]},"pt":{"name":"Displasia óssea primária"},"pl":{"name":"Pierwotna dysplazja kostna","synonyms":["Pierwotna dysplazja szkieletowa","Pierwotna osteodysplazja","Pierwotna osteodysplazja","Pierwotna dysplazja szkieletowa"]},"cs":{"name":"Primární kostní dysplázie","synonyms":["Primární osteodysplázie"]},"uk":{"name":"Первинна дисплазія кісток","synonyms":["Первинна остеодисплазія","Первинна скелетна дисплазія"]},"zh":{"name":"原发性骨发育不良","synonyms":["原发性骨发育不良"]},"tr":{"name":"Primer kemik displazisi","synonyms":["Primer osteodisplazi","Primer iskelet displazisi"]}},"xrefs":[{"source":"MONDO","code":"18230","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679916","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":1823,"name":"OBSOLETE: Localized epiphyseal dysplasia","status":"inactive"},{"type":"Referred to","orpha":2458,"name":"OBSOLETE: Mandibulofacial dysostosis-deafness-postaxial polydactyly syndrome","status":"inactive"},{"type":"Referred to","orpha":2507,"name":"OBSOLETE: Mickleson syndrome","status":"inactive"},{"type":"Referred to","orpha":2864,"name":"OBSOLETE: Short stature-prognathism-short femoral necks syndrome","status":"inactive"},{"type":"Referred to","orpha":99143,"name":"OBSOLETE: Mandibulofacial dysostosis-lymphedema syndrome","status":"inactive"}],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":139012,"name":"Rare bone development disorder","classifications":[147]},{"orpha":93419,"name":"Rare bone disease","classifications":[199]},{"orpha":404584,"name":"Rare genetic bone development disorder","classifications":[156]},{"orpha":183524,"name":"Rare genetic bone disease","classifications":[156]}],"children":[{"orpha":93436,"name":"Acromelic dysplasia","type":"Clinical group"},{"orpha":93437,"name":"Acromesomelic dysplasia","type":"Clinical group"},{"orpha":93439,"name":"Campomelic dysplasia and related disorders","type":"Clinical group"},{"orpha":93442,"name":"Chondrodysplasia punctata","type":"Clinical group"},{"orpha":93426,"name":"Ciliopathies with major skeletal involvement","type":"Category"},{"orpha":93451,"name":"Cleidocranial dysplasia and isolated cranial ossification defect","type":"Category"},{"orpha":498445,"name":"Genetic inflammatory or rheumatoid-like osteoarthropathy","type":"Category"},{"orpha":93465,"name":"Lethal chondrodysplasia","type":"Category"},{"orpha":93438,"name":"Mesomelic and rhizo-mesomelic dysplasia","type":"Clinical group"},{"orpha":93429,"name":"Multiple epiphyseal dysplasia and pseudoachondroplasia","type":"Category"},{"orpha":93430,"name":"Multiple metaphyseal dysplasia","type":"Clinical group"},{"orpha":364541,"name":"Otopalatodigital syndrome spectrum disorder","type":"Clinical group"},{"orpha":498448,"name":"Overgrowth or tall stature syndrome with skeletal involvement","type":"Category"},{"orpha":93446,"name":"Primary bone dysplasia with decreased bone density","type":"Category"},{"orpha":93447,"name":"Primary bone dysplasia with defective bone mineralization","type":"Category"},{"orpha":93450,"name":"Primary bone dysplasia with disorganized development of skeletal components","type":"Category"},{"orpha":93444,"name":"Primary bone dysplasia with increased bone density","type":"Category"},{"orpha":364536,"name":"Primary bone dysplasia with micromelia","type":"Category"},{"orpha":93441,"name":"Primary bone dysplasia with multiple joint dislocations","type":"Clinical group"},{"orpha":364531,"name":"Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments","type":"Category"},{"orpha":93449,"name":"Primary osteolysis","type":"Category"},{"orpha":435804,"name":"Short stature-advanced bone age-early-onset osteoarthritis syndrome","type":"Disease"},{"orpha":93440,"name":"Slender bone dysplasia","type":"Clinical group"},{"orpha":93434,"name":"Spondylodysplastic dysplasia","type":"Clinical group"},{"orpha":253,"name":"Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia","type":"Clinical group"},{"orpha":254,"name":"Spondylometaphyseal dysplasia","type":"Clinical group"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}