{"orpha":325357,"name":"46,XY difference of sex development due to impaired androgen production","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["46,XY DSD due to impaired androgen production","46,XY disorder of sex development due to impaired androgen production"],"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-325357/","orphanet_url":"https://www.orpha.net/en/disease/detail/325357","names":{"fr":{"name":"Différence du développement sexuel 46,XY par défaut de production d'androgènes","synonyms":["ADS 46,XY par défaut de production d'androgènes","Anomalie du développement sexuel 46,XY par défaut de production d'androgènes","DSD 46,XY par défaut de production d'androgènes"]},"de":{"name":"Störung der Geschlechtsentwicklung 46,XY, bei gestörter Androgenproduktion","synonyms":["46,XY-DSD durch Störung der Androgenproduktion"]},"es":{"name":"Desarrollo sexual diferente 46,XY por una alteración en la producción de andrógenos","synonyms":["DSD 46,XY por una alteración en la producción de andrógenos","Trastorno del desarrollo sexual 46,XY por una alteración en la producción de andrógenos"]},"it":{"name":"Disturbo dello sviluppo sessuale 46,XY da anomalie nella produzione di androgeni","synonyms":["DSD 46,XY da anomalie nella produzione di androgeni"]},"nl":{"name":"46,XY-geslachtsontwikkelingsstoornis door verstoorde androgeenproductie","synonyms":["46,XY-DSD door verstoorde androgeenproductie"]},"pt":{"name":"Doença do desenvolvimento sexual 46,XY devida à produção prejudicada de andrógenio"},"pl":{"name":"Zaburzenie różnicowania płci z kariotypem 46,XY z powodu upośledzonej produkcji androgenów","synonyms":["ZRP 46,XY z powodu upośledzonej produkcji androgenów"]},"cs":{"name":"46,XY porucha pohlavního vývoje způsobená produkcí poškozeného androgenu","synonyms":["46,XY DSD způsobená produkcí poškozeného androgenu"]},"uk":{"name":"46,XY порушення статевої диференціації через порушення вироблення андрогенів","synonyms":["46,XY порушення статевого розвитку через порушення вироблення андрогенів","46,XY ПСР через порушення вироблення андрогенів"]},"zh":{"name":"46，XY雄激素分泌障碍性发育障碍","synonyms":["46，XY雄激素分泌障碍性DSD"]},"tr":{"name":"Bozulmuş androjen üretimine bağlı 46,XY cinsiyet gelişim bozukluğu","synonyms":["Bozulmuş androjen üretimine bağlı 46, XY DSD"]}},"xrefs":[{"source":"MONDO","code":"17970","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679870","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":325351,"name":"46,XY difference of sex development of endocrine origin","classifications":[147,185,193]},{"orpha":325713,"name":"Genetic 46,XY difference of sex development of endocrine origin","classifications":[156]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]}],"children":[{"orpha":98086,"name":"46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue","type":"Category"},{"orpha":90783,"name":"46,XY difference of sex development due to a testosterone synthesis defect","type":"Category"},{"orpha":443090,"name":"46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect","type":"Category"},{"orpha":755,"name":"Leydig cell hypoplasia","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}