{"orpha":90783,"name":"46,XY difference of sex development due to a testosterone synthesis defect","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["46,XY DSD due to a testosterone synthesis defect","46,XY disorder of sex development due to a testosterone synthesis 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-90783/","orphanet_url":"https://www.orpha.net/en/disease/detail/90783","names":{"fr":{"name":"Différence du développement sexuel 46,XY par défaut de synthèse de testostérone","synonyms":["ADS 46,XY par défaut de synthèse de testostérone","Anomalie du développement sexuel 46,XY par défaut de synthèse de testostérone","DSD 46,XY par défaut de synthèse de testostérone"]},"de":{"name":"46,XY-DSD durch Testosteron-Synthese-Defekt","synonyms":["Störung der Geschlechtsentwicklung 46,XY durch Störung der Testosteron-Biosynthese"]},"es":{"name":"Desarrollo sexual diferente 46,XY por un defecto en la síntesis de la testosterona","synonyms":["DSD 46,XY por un defecto en la síntesis de la testosterona","Trastorno del desarrollo sexual 46,XY por un defecto en la síntesis de la testosterona"]},"it":{"name":"Disturbo dello sviluppo sessuale 46,XY da eccesso nella sintesi del testosterone","synonyms":["DSD 46,XY da difetto nella sintesi del testosterone"]},"nl":{"name":"46,XY-geslachtsontwikkelingsstoornis door defect van testosteronsynthese","synonyms":["46,XY-DSD door defect van testosteronsynthese"]},"pt":{"name":"Doença do desenvolvimento sexual 46,XY por erro inato da biossíntese da testosterona"},"pl":{"name":"Zaburzenie różnicowania płci z kariotypem 46,XY spowodowane zaburzeniem syntezy testosteronu","synonyms":["46,XY DSD spowodowane zaburzeniem syntezy testosteronu"]},"cs":{"name":"46,XY porucha pohlavního vývoje způsobená poruchou syntézy testosteronu","synonyms":["46,XY DSD způsobená poruchou syntézy testosteronu"]},"uk":{"name":"46,XY порушення статевої диференціації через дефект синтезу тестостерону","synonyms":["46,XY порушення статевого розвитку внаслідок дефекту синтезу тестостерону","46,XY ПСР через дефект синтезу тестостерону"]},"zh":{"name":"睾酮合成缺陷所致男性假两性畸形","synonyms":["睾酮合成缺陷所致男性假两性畸形"]},"tr":{"name":"Testosteron sentez kusuruna bağlı 46,XY cinsiyet gelişim bozukluğu","synonyms":["Testosteron sentez defektine bağlı 46, XY DSD"]}},"xrefs":[{"source":"UMLS","code":"C5680188","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":325357,"name":"46,XY difference of sex development due to impaired androgen production","classifications":[147,156,185,193,233]}],"children":[{"orpha":325511,"name":"46,XY difference of sex development due to a cholesterol synthesis defect","type":"Category"},{"orpha":90786,"name":"46,XY difference of sex development due to adrenal and testicular steroidogenesis defect","type":"Category"},{"orpha":90787,"name":"46,XY difference of sex development due to testicular steroidogenesis defect","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}