{"orpha":93450,"name":"Primary bone dysplasia with disorganized development of skeletal components","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Primary osteodysplasia with disorganized development of skeletal components","Primary skeletal dysplasia with disorganized development of skeletal components"],"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-93450/","orphanet_url":"https://www.orpha.net/en/disease/detail/93450","names":{"fr":{"name":"Dysplasie osseuse primaire avec développement anarchique d'un élément du squelette","synonyms":["Dysplasie squelettique primaire avec développement anarchique d'un élément du squelette","Ostéodysplasie primaire avec développement anarchique d'un élément du squelette"]},"de":{"name":"Primäre Knochendysplasie mit desorganisierter Skelettentwicklung","synonyms":["Primäre Osteodysplasie mit desorganisierter Skelettentwicklung","Primäre Skelettdysplasie mit desorganisierter Skelettentwicklung"]},"es":{"name":"Displasia ósea primaria con desarrollo desorganizado de los componentes esqueléticos","synonyms":["Displasia esquelética primaria con desarrollo desorganizado de los componentes esqueléticos","Osteodisplasia primaria con desarrollo desorganizado de los componentes esqueléticos"]},"it":{"name":"Displasia ossea primitiva con sviluppo disorganizzato delle componenti scheletriche","synonyms":["Displasia scheletrica primitiva con sviluppo disorganizzato delle componenti scheletriche","Osteodisplasia primitiva con sviluppo disorganizzato delle componenti scheletriche"]},"nl":{"name":"Primaire botdysplasie met ongeorganiseerde ontwikkeling van skeletale componenten","synonyms":["Primaire osteodysplasie met ongeorganiseerde ontwikkeling van skeletale componenten","Primaire skeletale dysplasie met ongeorganiseerde ontwikkeling van skeletale componenten"]},"pt":{"name":"Displasia óssea primária com desenvolvimento desorganizado de compenentes esqueléticos","synonyms":["Desenvolvimento desorganizado de esqueleto"]},"pl":{"name":"Choroba kości z niescharmonizowanym rozwojem poszczególnych części szkieletu","synonyms":["Primary osteodysplasia with disorganized development of skeletal components","Primary skeletal dysplasia with disorganized development of skeletal components"]},"cs":{"name":"Primární kostní dysplázie s disorganizovaným vývojem skeletálních komponent","synonyms":["Primární osteodysplázie s disorganizovanými vývojem skeletálních komponent","Primární skeletální dysplázie s disorganizovaným vývojem skeletálních komponent"]},"uk":{"name":"Первинна кісткова дисплазія з дезорганізованим розвитком компонентів скелета","synonyms":["Первинна остеодисплазія з дезорганізованим розвитком скелетних компонентів","Первинна скелетна дисплазія з дезорганізованим розвитком скелетних компонентів"]},"zh":{"name":"原发性骨发育不良伴骨骼成分发育紊乱","synonyms":["原发性骨发育不良伴骨骼成分发育紊乱"]},"tr":{"name":"İskelet bileşenlerinin düzensiz gelişimi ile seyreden primer kemik displazisi","synonyms":["İskelet bileşenlerinin düzensiz gelişimi ile seyreden primer osteodisplazi","İskelet bileşenlerinin düzensiz gelişimi ile seyreden primer iskelet displazisi"]}},"xrefs":[{"source":"UMLS","code":"C5680276","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":1844,"name":"OBSOLETE: Bone dysplasia, Azouz type","status":"inactive"}],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":364526,"name":"Primary bone dysplasia","classifications":[147,156,199]}],"children":[{"orpha":2767,"name":"Carpotarsal osteochondromatosis","type":"Malformation syndrome"},{"orpha":184,"name":"Cherubism","type":"Malformation syndrome"},{"orpha":1822,"name":"Dysplasia epiphysealis hemimelica","type":"Malformation syndrome"},{"orpha":85198,"name":"Dysspondyloenchondromatosis","type":"Malformation syndrome"},{"orpha":1962,"name":"Exostoses-anetodermia-brachydactyly type E syndrome","type":"Malformation syndrome"},{"orpha":337,"name":"Fibrodysplasia ossificans progressiva","type":"Disease"},{"orpha":595216,"name":"Fibrous dysplasia/McCune-Albright syndrome","type":"Clinical group"},{"orpha":85197,"name":"Genochondromatosis type 1","type":"Disease"},{"orpha":93398,"name":"Genochondromatosis type 2","type":"Disease"},{"orpha":53697,"name":"Gnathodiaphyseal dysplasia","type":"Malformation syndrome"},{"orpha":73,"name":"Gorham-Stout disease","type":"Malformation syndrome"},{"orpha":163634,"name":"Maffucci syndrome","type":"Disease"},{"orpha":57782,"name":"Mazabraud syndrome","type":"Malformation syndrome"},{"orpha":2499,"name":"Metachondromatosis","type":"Malformation syndrome"},{"orpha":99646,"name":"Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria","type":"Disease"},{"orpha":321,"name":"Multiple osteochondromas","type":"Disease"},{"orpha":2770,"name":"Nasu-Hakola disease","type":"Malformation syndrome"},{"orpha":636,"name":"Neurofibromatosis type 1","type":"Disease"},{"orpha":296,"name":"Ollier disease","type":"Disease"},{"orpha":488265,"name":"Osteofibrous dysplasia","type":"Disease"},{"orpha":2645,"name":"Osteoglosphonic dysplasia","type":"Malformation syndrome"},{"orpha":2762,"name":"Progressive osseous heteroplasia","type":"Malformation syndrome"},{"orpha":3019,"name":"Ramon syndrome","type":"Malformation syndrome"},{"orpha":2867,"name":"Short stature, Brussels type","type":"Malformation syndrome"},{"orpha":3408,"name":"Upington disease","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}