{"orpha":90786,"name":"46,XY difference of sex development due to adrenal and testicular steroidogenesis defect","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["46,XY DSD due to adrenal and testicular steroidogenesis defect","46,XY disorder of sex development due to adrenal and 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-90786/","orphanet_url":"https://www.orpha.net/en/disease/detail/90786","names":{"fr":{"name":"Différence du développement sexuel 46,XY par défaut de la stéroïdogenèse surrénalienne et testiculaire","synonyms":["ADS 46,XY par défaut de la stéroïdogenèse surrénalienne et testiculaire","Anomalie du développement sexuel 46,XY par défaut de la stéroïdogenèse surrénalienne et testiculaire","DSD 46,XY par défaut de la stéroïdogenèse surrénalienne et testiculaire"]},"de":{"name":"46,XY-DSD durch Defekt der adrenalen und testikulären Steroidogenese","synonyms":["Störung der Geschlechtsentwicklung 46,XY durch Defekt der adrenalen und testikulären Steroidogenese"]},"es":{"name":"Desarrollo sexual diferente 46,XY por un defecto en la esteroidogénesis suprarrenal y testicular","synonyms":["DSD 46,XY por un defecto en la esteroidogénesis suprarrenal y testicular","Trastorno del desarrollo sexual 46,XY por un defecto en la esteroidogénesis suprarrenal y testicular"]},"it":{"name":"Disturbo dello sviluppo sessuale 46,XY da difetto nella steroidogenesi testicolare e surrenalica","synonyms":["DSD 46,XY da difetto nella steroidogenesi testicolare e surrenalica"]},"nl":{"name":"46,XY-geslachtsontwikkelingsstoornis door defect van adrenale en testiculaire steroïdogenese","synonyms":["46,XY-DSD door defect van adrenale en testiculaire steroïdogenese"]},"pt":{"name":"Doença do desenvolvimento sexual 46,XY por defeito da esteroidogénese supra-renal e testicular"},"pl":{"name":"Zaburzenie różnicowania płci z kariotypem 46,XY spowodowane zaburzeniem steroidogenezy w nadnerczach i jądrach","synonyms":["46,XY DSD spowodowane zaburzeniem steroidogenezy w nadnerczach i jądrach"]},"cs":{"name":"46,XY porucha pohlavního vývoje způsobená poruchou adrenální a testikulární steroidogeneze","synonyms":["46,XY DSD způsobená poruchou adrenální a testikulární steroidogeneze"]},"uk":{"name":"46,XY порушення статевої диференціації внаслідок дефекту стероїдогенезу наднирників та яєчок","synonyms":["46,XY порушення статевого розвитку внаслідок дефекту стероїдогенезу наднирників та яєчок","46,XY ПСР внаслідок дефекту стероїдогенезу наднирників та яєчок"]},"zh":{"name":"肾上腺和睾丸类固醇生成缺陷所致男性假两性畸形","synonyms":["肾上腺和睾丸类固醇生成缺陷所致男性假两性畸形"]},"tr":{"name":"46, XY adrenal ve testiküler steroidogenez defektine bağlı cinsiyet gelişim bozukluğu","synonyms":["Adrenal ve testiküler steroidogenez defektine bağlı 46, XY DSD"]}},"xrefs":[{"source":"UMLS","code":"C5680187","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":168558,"name":"46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency","type":"Disease"},{"orpha":63269,"name":"Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis","type":"Clinical subtype"},{"orpha":90793,"name":"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency","type":"Disease"},{"orpha":90791,"name":"Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency","type":"Disease"},{"orpha":95699,"name":"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency","type":"Disease"},{"orpha":90790,"name":"Congenital lipoid adrenal hyperplasia due to STAR deficency","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}