{"orpha":93447,"name":"Primary bone dysplasia with defective bone mineralization","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Primary osteodysplasia with defective bone mineralization","Primary skeletal dysplasia with defective bone mineralization"],"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-93447/","orphanet_url":"https://www.orpha.net/en/disease/detail/93447","names":{"fr":{"name":"Dysplasie osseuse primaire par défaut de minéralisation","synonyms":["Dysplasie squelettique primaire par défaut de minéralisation","Ostéodysplasie primaire par défaut de minéralisation"]},"de":{"name":"Primäre Knochendysplasie mit Knochenmineralisationsdefekt","synonyms":["Primäre Osteodysplasie mit Knochenmineralisationsdefekt","Primäre Skelettdysplasie mit Knochenmineralisationsdefekt"]},"es":{"name":"Displasia ósea primaria con mineralización ósea defectuosa","synonyms":["Displasia esquelética primaria con mineralización ósea defectuosa","Osteodisplasia primaria con mineralización ósea defectuosa"]},"it":{"name":"Displasia ossea primitiva con difetto della mineralizzazione ossea","synonyms":["Displasia scheletrica primitiva con difetto della mineralizzazione ossea","Osteodisplasia primitiva con difetto della mineralizzazione ossea"]},"nl":{"name":"Primaire botdysplasie met defecte botmineralisatie","synonyms":["Primaire osteodysplasie met defecte botmineralisatie","Primaire skeletdysplasie met defecte botmineralisatie"]},"pt":{"name":"Doença óssea com deficiência da mineralização óssea"},"pl":{"name":"Choroba kości z wadliwą mineralizacją","synonyms":["Primary osteodysplasia with defective bone mineralization","Primary skeletal dysplasia with defective bone mineralization"]},"cs":{"name":"Primární kostní dysplázie s vadnou kostní mineralizací","synonyms":["Primární osteodysplázie s vadnou kostní mineralizací","Primární skeletální dysplázie s vadnou kostní mineralizací"]},"uk":{"name":"Первинна кісткова дисплазія з порушенням мінералізації кісткової тканини","synonyms":["Первинна остеодисплазія з порушенням мінералізації кісткової тканини","Первинна скелетна дисплазія з порушенням мінералізації кісток"]},"zh":{"name":"原发性骨发育不良伴骨矿化缺陷","synonyms":["原发性骨发育不良伴骨矿化缺陷"]},"tr":{"name":"Defektif kemik mineralizasyonu ile seyreden primer kemik displazisi","synonyms":["Defektif kemik mineralizasyonu ile seyreden primer osteodisplazi","Defektif kemik mineralizasyonu ile seyreden primer iskelet displazisi"]}},"xrefs":[{"source":"UMLS","code":"C5680272","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":289098,"name":"Disorders of vitamin D metabolism","type":"Category"},{"orpha":79106,"name":"Eiken syndrome","type":"Malformation syndrome"},{"orpha":1416,"name":"Familial calcium pyrophosphate deposition","type":"Disease"},{"orpha":405,"name":"Familial hypocalciuric hypercalcemia","type":"Disease"},{"orpha":436,"name":"Hypophosphatasia","type":"Disease"},{"orpha":50811,"name":"Lipodystrophy-intellectual disability-deafness syndrome","type":"Disease"},{"orpha":417,"name":"Neonatal severe primary hyperparathyroidism","type":"Disease"},{"orpha":557003,"name":"Oculoskeletodental syndrome","type":"Disease"},{"orpha":73230,"name":"Ossification anomalies-psychomotor developmental delay syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}