{"orpha":93444,"name":"Primary bone dysplasia with increased bone density","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Primary osteodysplasia with increased bone density","Primary skeletal dysplasia with increased bone density","Sclerosing bone 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-93444/","orphanet_url":"https://www.orpha.net/en/disease/detail/93444","names":{"fr":{"name":"Dysplasie osseuse primaire condensante","synonyms":["Dysplasie osseuse sclérosante","Dysplasie squelettique primaire condensante","Ostéodysplasie primaire condensante"]},"de":{"name":"Primäre Knochendysplasie mit erhöhter Knochendichte","synonyms":["Knochendysplasie, sklerosierende","Primäre Osteodysplasie mit erhöhter Knochendichte","Primäre Skelettdysplasie mit erhöhter Knochendichte"]},"es":{"name":"Displasia ósea primaria con aumento de la densidad ósea","synonyms":["Displasia esquelética primaria con aumento de la densidad ósea","Displasia ósea esclerosante","Osteodisplasia primaria con aumento de la densidad ósea"]},"it":{"name":"Displasia ossea primitiva con aumento della densità ossea","synonyms":["Displasia scheletrica primitiva con aumento della densità ossea","Osteodisplasia primitiva con aumento della densità ossea"]},"nl":{"name":"Primaire botdysplasie met verhoogde botdichtheid","synonyms":["Primaire osteodysplasie met verhoogde botdichtheid","Primaire skeletdysplasie met verhoogde botdichtheid","Scleroserende botdysplasie"]},"pt":{"name":"Doença óssea com aumento da densidade óssea sem modificação da forma do osso"},"pl":{"name":"Choroba kości ze zwiększoną gęstością bez zmiany kształtu","synonyms":["Primary osteodysplasia with increased bone density","Primary skeletal dysplasia with increased bone density","Sclerosing bone dysplasia"]},"cs":{"name":"Primární kostní dysplázie se zvýšenou kostní denzitou","synonyms":["Primární osteodysplázie se zvýšenou kostní denzitou","Primární skeletální dysplázie se zvýšenou kostní denzitou"]},"uk":{"name":"Первинна кісткова дисплазія з підвищеною щільністю кісткової тканини","synonyms":["Первинна остеодисплазія з підвищеною щільністю кісткової тканини","Первинна скелетна дисплазія з підвищеною щільністю кісткової тканини","Склерозуюча дисплазія кісток"]},"zh":{"name":"原发性骨发育不良伴骨密度增加","synonyms":["原发性骨发育不良伴骨密度增加"]},"tr":{"name":"Artmış kemik yoğunluğu ile seyreden primer kemik displazisi","synonyms":["Sklerozan kemik displazisi","Artmış kemik yoğunluğu ile seyreden primer osteodisplazi","Artmış kemik yoğunluğu ile seyreden primer iskelet displazisi"]}},"xrefs":[{"source":"UMLS","code":"C5680274","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":1562,"name":"OBSOLETE: Dacryocystitis-osteopoikilosis syndrome","status":"inactive"},{"type":"Referred to","orpha":93445,"name":"OBSOLETE: Bone disease with increased bone density and metaphyseal or diaphyseal involvement","status":"inactive"}],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":364526,"name":"Primary bone dysplasia","classifications":[147,156,199]}],"children":[{"orpha":1328,"name":"Camurati-Engelmann disease","type":"Malformation syndrome"},{"orpha":1513,"name":"Craniodiaphyseal dysplasia","type":"Malformation syndrome"},{"orpha":1798,"name":"Craniofacial dysostosis-diaphyseal hyperplasia syndrome","type":"Malformation syndrome"},{"orpha":85184,"name":"Craniometadiaphyseal dysplasia, wormian bone type","type":"Malformation syndrome"},{"orpha":1522,"name":"Craniometaphyseal dysplasia","type":"Malformation syndrome"},{"orpha":728902,"name":"Craniotubular dysplasia, Ikegawa type","type":"Malformation syndrome"},{"orpha":85182,"name":"Diaphyseal medullary stenosis-bone malignancy syndrome","type":"Disease"},{"orpha":646139,"name":"Dysplastic cortical hyperostosis","type":"Malformation syndrome"},{"orpha":2790,"name":"Endosteal hyperostosis, Worth type","type":"Malformation syndrome"},{"orpha":1802,"name":"Ghosal hematodiaphyseal dysplasia","type":"Malformation syndrome"},{"orpha":314029,"name":"High bone mass osteogenesis imperfecta","type":"Disease"},{"orpha":3416,"name":"Hyperostosis corticalis generalisata","type":"Malformation syndrome"},{"orpha":443098,"name":"Hyperostosis cranialis interna","type":"Disease"},{"orpha":2801,"name":"Juvenile Paget disease","type":"Malformation syndrome"},{"orpha":2658,"name":"Lenz-Majewski hyperostotic dysplasia","type":"Malformation syndrome"},{"orpha":85188,"name":"Metaphyseal dysplasia, Braun-Tinschert type","type":"Malformation syndrome"},{"orpha":324364,"name":"Mixed sclerosing bone dystrophy with extra-skeletal manifestations","type":"Disease"},{"orpha":93443,"name":"Neonatal osteosclerotic dysplasia","type":"Clinical group"},{"orpha":2710,"name":"Oculodentodigital dysplasia","type":"Malformation syndrome"},{"orpha":2779,"name":"Osteopathia striata-pigmentary dermopathy-white forelock syndrome","type":"Malformation syndrome"},{"orpha":2781,"name":"Osteopetrosis and related disorders","type":"Clinical group"},{"orpha":75325,"name":"Osteosclerosis-ichthyosis-premature ovarian failure syndrome","type":"Disease"},{"orpha":248095,"name":"Primary hypertrophic osteoarthropathy","type":"Clinical group"},{"orpha":3005,"name":"Pyle disease","type":"Disease"},{"orpha":3152,"name":"Sclerosteosis","type":"Malformation syndrome"},{"orpha":3352,"name":"Tricho-dento-osseous syndrome","type":"Malformation syndrome"},{"orpha":391327,"name":"X-linked calvarial hyperostosis","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}