{"orpha":90787,"name":"46,XY difference of sex development due to testicular steroidogenesis defect","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["46,XY DSD due to testicular steroidogenesis defect","46,XY disorder of sex development due to testicular steroidogenesis defect"],"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-90787/","orphanet_url":"https://www.orpha.net/en/disease/detail/90787","names":{"fr":{"name":"Différence du développement sexuel 46,XY par défaut de la stéroïdogenèse testiculaire","synonyms":["ADS 46,XY par défaut de la stéroïdogenèse testiculaire","Anomalie du développement sexuel 46,XY par défaut de la stéroïdogenèse testiculaire","DSD 46,XY par défaut de la stéroïdogenèse testiculaire"]},"de":{"name":"46,XY-DSD durch testikulären Steroidogenese-Defekt","synonyms":["Störung der Geschlechtsentwicklung 46,XY durch testikulären Steroidogenese-Defekt"]},"es":{"name":"Desarrollo sexual diferente 46,XY por un defecto en la esteroidogénesis testicular","synonyms":["DSD 46,XY por un defecto en la esteroidogénesis testicular","Trastorno del desarrollo sexual 46,XY por un defecto en la esteroidogénesis testicular"]},"it":{"name":"Disturbo dello sviluppo sessuale 46,XY da difetto nella steroidogenesi testicolare","synonyms":["DSD 46,XY da difetto nella steroidogenesi testicolare"]},"nl":{"name":"46,XY-geslachtsontwikkelingsstoornis door defect van testiculaire steroïdogenese","synonyms":["46,XY-DSD door defect van testiculaire steroïdogenese"]},"pt":{"name":"Doença do desenvolvimento sexual 46,XY por deficiência enzimática afetando sobretudo a biossíntese de testosterona testicular"},"pl":{"name":"Zaburzenie różnicowania płci z kariotypem 46,XY spowodowane zaburzeniem steroidogenezy w jądrach","synonyms":["46,XY DSD spowodowane zaburzeniem steroidogenezy w jądrach"]},"cs":{"name":"46,XY porucha pohlavního vývoje způsobená poruchou testikulární steroidogeneze","synonyms":["46,XY DSD způsobená poruchou testikulární steroidogeneze"]},"uk":{"name":"46,XY порушення статевої диференціації внаслідок дефекту стероїдогенезу яєчок","synonyms":["46,XY порушення статевого розвитку внаслідок дефекту стероїдогенезу яєчок","46,XY ПСР внаслідок дефекту стероїдогенезу яєчок"]},"zh":{"name":"睾丸类固醇生成缺陷所致男性假两性畸形","synonyms":["睾丸类固醇生成缺陷所致男性假两性畸形"]},"tr":{"name":"Testiküler steroidogenez kusuruna bağlı 46,XY cinsiyet gelişim bozukluğu","synonyms":["Testiküler steroidogenez defektine bağlı 46, XY DSD"]}},"xrefs":[{"source":"UMLS","code":"C5680186","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":90783,"name":"46,XY difference of sex development due to a testosterone synthesis defect","classifications":[147,156,185,193,233]},{"orpha":325632,"name":"46,XY difference of sex development of gynecological interest","classifications":[156,205]}],"children":[{"orpha":752,"name":"46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency","type":"Disease"},{"orpha":90796,"name":"46,XY difference of sex development due to isolated 17,20-lyase deficiency","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}