{"orpha":498454,"name":"Dysostosis with brachydactyly with extraskeletal manifestations","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"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-498454/","orphanet_url":"https://www.orpha.net/en/disease/detail/498454","names":{"fr":{"name":"Dysostose avec brachydactylie avec manifestations extrasquelettiques"},"de":{"name":"Dysostose mit Brachydaktylie mit extraskelettalen Manifestationen"},"es":{"name":"Disostosis con braquidactilia con manifestaciones extraesqueléticas"},"it":{"name":"Disostosi con brachidattilia con segni clinici extrascheletrici"},"nl":{"name":"Dysostose met brachydactylie met extraskeletale manifestaties"},"pt":{"name":"Disostose com braquidactilia com manifestações extraesqueléticas"},"pl":{"name":"Dyzostoza z brachydaktylią z objawami pozaszkieletowymi"},"cs":{"name":"Dysostóza a brachydaktylie s mimokostními manifestacemi"},"uk":{"name":"Дизостоз з брахідактилією з екстраскелетними проявами"},"zh":{"name":"骨发育不全-短指畸形合并骨骼外表现"},"tr":{"name":"Ekstraskeletal belirtilerle seyreden brakidaktili disostoz"}},"xrefs":[{"source":"UMLS","code":"C5681833","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":69028,"name":"Dysostosis with brachydactyly","classifications":[147,156,199]}],"children":[{"orpha":1001,"name":"2q37 microdeletion syndrome","type":"Malformation syndrome"},{"orpha":2956,"name":"Acrodysplasia scoliosis","type":"Malformation syndrome"},{"orpha":974,"name":"Adams-Oliver syndrome","type":"Malformation syndrome"},{"orpha":1276,"name":"Brachydactyly-arterial hypertension syndrome","type":"Malformation syndrome"},{"orpha":2946,"name":"Brachydactyly-long thumb syndrome","type":"Malformation syndrome"},{"orpha":1278,"name":"Brachydactyly-preaxial hallux varus syndrome","type":"Malformation syndrome"},{"orpha":166035,"name":"Brachydactyly-short stature-retinitis pigmentosa syndrome","type":"Malformation syndrome"},{"orpha":1292,"name":"Brachymorphism-onychodysplasia-dysphalangism syndrome","type":"Malformation syndrome"},{"orpha":1295,"name":"Brachytelephalangy-dysmorphism-Kallmann syndrome","type":"Malformation syndrome"},{"orpha":1305,"name":"Feingold syndrome","type":"Malformation syndrome"},{"orpha":2438,"name":"Hand-foot-genital syndrome","type":"Malformation syndrome"},{"orpha":247262,"name":"Hyperphosphatasia-intellectual disability syndrome","type":"Disease"},{"orpha":589608,"name":"Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies","type":"Disease"},{"orpha":238744,"name":"Mammary-digital-nail syndrome","type":"Malformation syndrome"},{"orpha":3433,"name":"Microcephaly-brachydactyly-kyphoscoliosis syndrome","type":"Malformation syndrome"},{"orpha":2911,"name":"Poland syndrome","type":"Malformation syndrome"},{"orpha":783,"name":"Rubinstein-Taybi syndrome","type":"Malformation syndrome"},{"orpha":1858,"name":"Skeletal dysplasia-epilepsy-short stature syndrome","type":"Malformation syndrome"},{"orpha":363417,"name":"Temtamy preaxial brachydactyly syndrome","type":"Malformation syndrome"},{"orpha":1078,"name":"Thumb stiffness-brachydactyly-intellectual disability syndrome","type":"Malformation syndrome"},{"orpha":52056,"name":"Ulnar/fibula ray defect-brachydactyly syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}