{"orpha":294949,"name":"Non-syndromic joint formation defects","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-294949/","orphanet_url":"https://www.orpha.net/en/disease/detail/294949","names":{"fr":{"name":"Anomalie de formation des articulations non syndromique"},"de":{"name":"Gelenkfehlbildung, nicht-syndromale"},"es":{"name":"Defectos no sindrómicos de la formación articular"},"it":{"name":"Difetti nella formazione delle articolazioni non sindromico"},"nl":{"name":"Niet-syndromale defecten van gewrichtsvorming"},"pt":{"name":"Defeitos da formação das articulações não-sindrómico"},"pl":{"name":"Niesyndromiczne wady powstawania stawów"},"cs":{"name":"Poruchy formování kloubů"},"uk":{"name":"Несиндромальні дефекти формування суглобів"},"zh":{"name":"关节构造畸形"},"tr":{"name":"Eklem oluşum defektleri"}},"xrefs":[{"source":"ICD-11","code":"LB90","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1429730271"},{"source":"MONDO","code":"17429","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925011","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":404571,"name":"Dysostosis of genetic origin with limb anomaly as a major feature","classifications":[156]},{"orpha":364568,"name":"Dysostosis with limb anomaly as a major feature","classifications":[147,199]},{"orpha":109011,"name":"Non-syndromic limb malformation","classifications":[147,156]}],"children":[{"orpha":3248,"name":"Isolated distal symphalangism","type":"Morphological anomaly"},{"orpha":3265,"name":"Isolated humero-radial synostosis","type":"Morphological anomaly"},{"orpha":3266,"name":"Isolated humero-radio-ulnar synostosis","type":"Morphological anomaly"},{"orpha":94056,"name":"Isolated humero-ulnar synostosis","type":"Morphological anomaly"},{"orpha":3269,"name":"Isolated radio-ulnar synostosis","type":"Morphological anomaly"},{"orpha":295028,"name":"Isolated tibio-fibular synostosis","type":"Morphological anomaly"},{"orpha":3250,"name":"Proximal symphalangism","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}