{"orpha":93455,"name":"Patellar dysostosis","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-93455/","orphanet_url":"https://www.orpha.net/en/disease/detail/93455","names":{"fr":{"name":"Dysostose rotulienne"},"de":{"name":"Dysostose, patellare"},"es":{"name":"Disostosis patelar"},"it":{"name":"Disostosi patellare"},"nl":{"name":"Patellaire dysostose"},"pt":{"name":"Disostose rotuliana"},"pl":{"name":"Dyzostoza rzepki"},"cs":{"name":"Dysostózy čéšky","synonyms":["Patelární dysostózy"]},"uk":{"name":"Дизостоз колінної чашечки"},"zh":{"name":"髌骨发育不全"},"tr":{"name":"Patellar disostoz"}},"xrefs":[{"source":"UMLS","code":"C5681590","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":1428,"name":"OBSOLETE: Familial chondromalacia patellae","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":364559,"name":"Dysostosis","classifications":[147,199]},{"orpha":404568,"name":"Dysostosis of genetic origin","classifications":[156]}],"children":[{"orpha":1509,"name":"Coxopodopatellar syndrome","type":"Disease"},{"orpha":2554,"name":"Ear-patella-short stature syndrome","type":"Malformation syndrome"},{"orpha":293150,"name":"Familial clubfoot due to PITX1 point mutation","type":"Etiological subtype"},{"orpha":86789,"name":"Isolated patella aplasia/hypoplasia","type":"Morphological anomaly"},{"orpha":597749,"name":"KAT6B-related multiple congenital anomalies syndrome","type":"Clinical group"},{"orpha":2614,"name":"Nail-patella syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}