{"orpha":498451,"name":"Dysostosis with brachydactyly without 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-498451/","orphanet_url":"https://www.orpha.net/en/disease/detail/498451","names":{"fr":{"name":"Dysostose avec brachydactylie sans manifestations extrasquelettiques"},"de":{"name":"Dysostose mit Brachydaktylie ohne extraskelettale Manifestationen"},"es":{"name":"Disostosis con braquidactilia sin manifestaciones extraesqueléticas"},"it":{"name":"Disostosi con brachidattilia senza segni clinici extrascheletrici"},"nl":{"name":"Dysostose met brachydactylie zonder extraskeletale manifestaties"},"pt":{"name":"Disostose com braquidactilia sem manifestações extraesqueléticas"},"pl":{"name":"Dyzostoza z brachydaktylią bez objawów pozaszkieletowych"},"cs":{"name":"Dysostóza a brachydaktylie bez mimokostních manifestací"},"uk":{"name":"Дизостоз з брахідактилією без екстраскелетних проявів"},"zh":{"name":"骨发育不全-短指畸形不伴有骨骼外表现"},"tr":{"name":"Ekstraskeletal belirtiler ile seyretmeyen brakidaktili disostoz"}},"xrefs":[{"source":"UMLS","code":"C5681233","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":294937,"name":"OBSOLETE: Brachydactyly","status":"inactive"},{"type":"Referred to","orpha":294996,"name":"OBSOLETE: Brachydactyly of fingers","status":"inactive"},{"type":"Referred to","orpha":294998,"name":"OBSOLETE: Brachydactyly of toes","status":"inactive"},{"type":"Referred to","orpha":295128,"name":"OBSOLETE: Brachydactyly of fingers, unilateral","status":"inactive"},{"type":"Referred to","orpha":295130,"name":"OBSOLETE: Brachydactyly of fingers, bilateral","status":"inactive"},{"type":"Referred to","orpha":295132,"name":"OBSOLETE: Brachydactyly of toes, unilateral","status":"inactive"},{"type":"Referred to","orpha":295134,"name":"OBSOLETE: Brachydactyly of toes, bilateral","status":"inactive"},{"type":"Referred to","orpha":295136,"name":"OBSOLETE: Symbrachydactyly of hand and foot, unilateral","status":"inactive"},{"type":"Referred to","orpha":295138,"name":"OBSOLETE: Symbrachydactyly of hand and foot, bilateral","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":69028,"name":"Dysostosis with brachydactyly","classifications":[147,156,199]}],"children":[{"orpha":93388,"name":"Brachydactyly type A1","type":"Malformation syndrome"},{"orpha":93396,"name":"Brachydactyly type A2","type":"Malformation syndrome"},{"orpha":93394,"name":"Brachydactyly type A4","type":"Malformation syndrome"},{"orpha":93382,"name":"Brachydactyly type A6","type":"Malformation syndrome"},{"orpha":93397,"name":"Brachydactyly type A7","type":"Malformation syndrome"},{"orpha":93383,"name":"Brachydactyly type B","type":"Malformation syndrome"},{"orpha":93384,"name":"Brachydactyly type C","type":"Malformation syndrome"},{"orpha":93387,"name":"Brachydactyly type E","type":"Malformation syndrome"},{"orpha":1275,"name":"Brachydactyly-elbow wrist dysplasia syndrome","type":"Malformation syndrome"},{"orpha":1319,"name":"Camptobrachydactyly","type":"Malformation syndrome"},{"orpha":1487,"name":"Cooks syndrome","type":"Malformation syndrome"},{"orpha":85169,"name":"Familial digital arthropathy-brachydactyly","type":"Malformation syndrome"},{"orpha":2565,"name":"Mononen-Karnes-Senac syndrome","type":"Malformation syndrome"},{"orpha":633211,"name":"Preaxial digit brachydactyly-webbed fingers","type":"Malformation syndrome"},{"orpha":498602,"name":"Sugarman brachydactyly","type":"Morphological anomaly"},{"orpha":1570,"name":"Symbrachydactyly of hands and feet","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}