{"orpha":325118,"name":"46,XY disorder of gonadal development","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-325118/","orphanet_url":"https://www.orpha.net/en/disease/detail/325118","names":{"fr":{"name":"Anomalie du développement des gonades 46,XY"},"de":{"name":"46,XY Störung der Gonadenentwicklung"},"es":{"name":"Anomalía del desarrollo gonadal 46,XY","synonyms":["Trastorno del desarrollo gonadal 46,XY"]},"it":{"name":"Disturbo dello sviluppo gonadico 46,XY"},"nl":{"name":"46,XY stoornis van gonadale ontwikkeling"},"pt":{"name":"Alteração 46, XY do desenvolvimento gonadal"},"pl":{"name":"Zaburzenie rozwoju gonad z kariotypem 46,XY"},"cs":{"name":"Porucha pohlavního vývoje s karyotypem 46,XY"},"uk":{"name":"46,XY порушення розвитку гонад"},"zh":{"name":"46，XY性腺发育障碍"},"tr":{"name":"46, XY gonadal gelişim bozukluğu"}},"xrefs":[{"source":"MONDO","code":"17966","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680949","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98085,"name":"46,XY difference of sex development","classifications":[147,185,193]},{"orpha":325706,"name":"Genetic 46,XY difference of sex development","classifications":[156]}],"children":[{"orpha":242,"name":"46,XY complete gonadal dysgenesis","type":"Malformation syndrome"},{"orpha":325345,"name":"46,XY ovotesticular difference of sex development","type":"Disease"},{"orpha":251510,"name":"46,XY partial gonadal dysgenesis","type":"Malformation syndrome"},{"orpha":325124,"name":"Testicular agenesis","type":"Morphological anomaly"},{"orpha":983,"name":"Testicular regression syndrome","type":"Morphological anomaly"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}