{"orpha":98086,"name":"46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue"],"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-98086/","orphanet_url":"https://www.orpha.net/en/disease/detail/98086","names":{"fr":{"name":"Différence du développement sexuel 46,XY associée à un défaut du métabolisme périphérique de testostérone","synonyms":["Anomalie du développement sexuel 46,XY associée à un défaut du métabolisme périphérique de testostérone"]},"de":{"name":"Störung der Geschlechtsentwicklung 46,XY, durch Defekt des Testosteron-Stoffwechsels im peripheren Gewebe","synonyms":["46,XY-DSD durch Defekt des Testosteron-Stoffwechsels im peripheren Gewebe"]},"es":{"name":"Desarrollo sexual diferente 46, XY por un defecto del metabolismo periférico de la testosterona","synonyms":["DSD 46, XY por un defecto del metabolismo periférico de la testosterona","Trastorno del desarrollo sexual 46, XY por un defecto del metabolismo periférico de la testosterona"]},"it":{"name":"Disturbo dello sviluppo sessuale 46,XY da difetti del metabolismo periferico del testosterone"},"nl":{"name":"46,XY-geslachtsontwikkelingsstoornis door defect van testosteronmetabolisme in perifeer weefsel"},"pt":{"name":"Doença do desenvolvimento sexual 46,XY por deficiência no metabolismo da testoterona do tecido periférico"},"pl":{"name":"Zaburzenie różnicowania płci o kariotypie 46,XY z powodu defektu w metaboliźmie testosteronu w tkankach obwodowych","synonyms":["46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue"]},"cs":{"name":"46,XY porucha sexuálního vývoje způsobená defektem testosteronového metabolismu v periferní tkáni","synonyms":["46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue"]},"uk":{"name":"46,XY порушення статевої диференціації внаслідок дефекту метаболізму тестостерону в периферичних тканинах","synonyms":["46,XY порушення статевого розвитку внаслідок дефекту метаболізму тестостерону периферичними тканинами"]},"zh":{"name":"外周组织睾酮代谢缺陷所致46,XY性发育异常"},"tr":{"name":"Periferik dokuda testosteron metabolizmasındaki kusura bağlı 46,XY cinsiyet gelişim bozukluğu"}},"xrefs":[{"source":"UMLS","code":"C5816696","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]},{"orpha":325632,"name":"46,XY difference of sex development of gynecological interest","classifications":[156,205]}],"children":[{"orpha":753,"name":"46,XY difference of sex development due to 5-alpha-reductase 2 deficiency","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}