{"orpha":93446,"name":"Primary bone dysplasia with decreased bone density","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Primary osteodysplasia with decreased bone density","Primary skeletal dysplasia with decreased bone density"],"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-93446/","orphanet_url":"https://www.orpha.net/en/disease/detail/93446","names":{"fr":{"name":"Dysplasie osseuse primaire avec hypodensité osseuse","synonyms":["Dysplasie squelettique primaire avec hypodensité osseuse","Ostéodysplasie primaire avec hypodensité osseuse"]},"de":{"name":"Primäre Knochendysplasie mit erniedrigter Knochendichte","synonyms":["Primäre Osteodysplasie mit erniedrigter Knochendichte","Primäre Skelettdysplasie mit erniedrigter Knochendichte"]},"es":{"name":"Displasia ósea primaria con disminución de la densidad ósea","synonyms":["Displasia esquelética primaria con disminución de la densidad ósea","Osteodisplasia primaria con disminución de la densidad ósea"]},"it":{"name":"Displasia ossea primitiva con diminuzione della densità ossea","synonyms":["Displasia scheletrica primitiva con diminuzione della densità ossea","Osteodisplasia primitiva con diminuzione della densità ossea"]},"nl":{"name":"Primaire botdysplasie met verminderde botdichtheid","synonyms":["Primaire osteodysplasie met verminderde botdichtheid","Primaire skeletdysplasie met verminderde botdichtheid"]},"pt":{"name":"Doença óssea com diminuição da densidade óssea"},"pl":{"name":"Choroba kości ze zmniejszoną gęstością","synonyms":["Primary osteodysplasia with decreased bone density","Primary skeletal dysplasia with decreased bone density"]},"cs":{"name":"Primární kostní dysplázie se sníženou kostní denzitou","synonyms":["Primární osteodysplázie se sníženou kostní denzitou","Primární skeletální dysplázie se sníženou kostní denzitou"]},"uk":{"name":"Первинна дисплазія кісток зі зниженою щільністю кісткової тканини","synonyms":["Первинна остеодисплазія зі зниженою щільністю кісткової тканини","Первинна скелетна дисплазія зі зниженою щільністю кісткової тканини"]},"zh":{"name":"原发性骨发育不良伴骨密度降低","synonyms":["原发性骨发育不良伴骨密度降低"]},"tr":{"name":"Azalmış kemik yoğunluğu ile seyreden primer kemik displazisi","synonyms":["Azalmış kemik yoğunluğu ile seyreden primer osteodisplazi","Azalmış kemik yoğunluğu ile seyreden primer iskelet displazisi"]}},"xrefs":[{"source":"UMLS","code":"C5680273","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":1800,"name":"OBSOLETE: Craniofaciocervical osteoglyphic dysplasia","status":"inactive"},{"type":"Referred to","orpha":2787,"name":"OBSOLETE: Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome","status":"inactive"},{"type":"Referred to","orpha":3331,"name":"OBSOLETE: Bowed tibiae-radial anomalies-osteopenia-fractures syndrome","status":"inactive"}],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":364526,"name":"Primary bone dysplasia","classifications":[147,156,199]}],"children":[{"orpha":90350,"name":"Autosomal recessive cutis laxa type 2","type":"Clinical group"},{"orpha":536467,"name":"B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome","type":"Clinical subtype"},{"orpha":2771,"name":"Bruck syndrome","type":"Malformation syndrome"},{"orpha":85192,"name":"Calvarial doughnut lesions-bone fragility syndrome","type":"Malformation syndrome"},{"orpha":319195,"name":"Chondroectodermal dysplasia with night blindness","type":"Disease"},{"orpha":536532,"name":"Classical-like Ehlers-Danlos syndrome type 2","type":"Disease"},{"orpha":2050,"name":"Cole-Carpenter syndrome","type":"Malformation syndrome"},{"orpha":457378,"name":"Complex lethal osteochondrodysplasia","type":"Malformation syndrome"},{"orpha":2772,"name":"Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome","type":"Malformation syndrome"},{"orpha":230857,"name":"Ehlers-Danlos/osteogenesis imperfecta syndrome","type":"Disease"},{"orpha":2078,"name":"Geroderma osteodysplastica","type":"Malformation syndrome"},{"orpha":53697,"name":"Gnathodiaphyseal dysplasia","type":"Malformation syndrome"},{"orpha":2097,"name":"Grant syndrome","type":"Malformation syndrome"},{"orpha":85193,"name":"Idiopathic juvenile osteoporosis","type":"Malformation syndrome"},{"orpha":498481,"name":"LRP5-related primary osteoporosis","type":"Malformation syndrome"},{"orpha":666,"name":"Osteogenesis imperfecta","type":"Disease"},{"orpha":2773,"name":"Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome","type":"Malformation syndrome"},{"orpha":2324,"name":"Osteopenia-intellectual disability-sparse hair syndrome","type":"Malformation syndrome"},{"orpha":2786,"name":"Osteoporosis-oculocutaneous hypopigmentation syndrome","type":"Malformation syndrome"},{"orpha":2788,"name":"Osteoporosis-pseudoglioma syndrome","type":"Disease"},{"orpha":85191,"name":"Singleton-Merten dysplasia","type":"Malformation syndrome"},{"orpha":85194,"name":"Spondylo-ocular syndrome","type":"Malformation syndrome"},{"orpha":314667,"name":"TMEM165-CDG","type":"Disease"},{"orpha":166277,"name":"Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia","type":"Malformation syndrome"},{"orpha":391330,"name":"X-linked osteoporosis with fractures","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}