{"orpha":2982,"name":"46,XX difference of sex development","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["46,XX DSD","46,XX disorder of sex development"],"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-2982/","orphanet_url":"https://www.orpha.net/en/disease/detail/2982","names":{"fr":{"name":"Différence du développement sexuel 46,XX","synonyms":["ADS 46,XX","Anomalie du développement sexuel 46,XX","DSD 46,XX"]},"de":{"name":"Störung der Geschlechtsentwicklung bei 46,XX Karyotyp","synonyms":["46,XX-DSD","Pseudohermaphroditismus, weiblicher"]},"es":{"name":"Desarrollo sexual diferente 46,XX","synonyms":["DSD 46,XX","Trastorno del desarrollo sexual 46,XX"]},"it":{"name":"Disturbi dello sviluppo sessuale 46,XX","synonyms":["Pseudoermafroditismo femminile"]},"nl":{"name":"46,XX-geslachtsontwikkelingsstoornis","synonyms":["46,XX-DSD"]},"pt":{"name":"Doença do desenvolvimento sexual 46,XX"},"pl":{"name":"Zaburzenie różnicowania płci z kariotypem 46,XY","synonyms":["46,XX DSD","Pseudohermafrodytyzm żeński"]},"cs":{"name":"46,XX porucha sexuálního vývoje","synonyms":["46,XX DSD","Ženský pseudohermafroditismus"]},"uk":{"name":"46,XX порушення статевої диференціації","synonyms":["46,XX порушення статевого розвитку","46,XX DSD"]},"zh":{"name":"女性假两性畸形","synonyms":["女性假两性畸形"]},"tr":{"name":"46, XX cinsiyet gelişim bozukluğu","synonyms":["46, XX DSD"]}},"xrefs":[{"source":"MONDO","code":"0017576","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17576","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D058489","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2936403","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":90771,"name":"Difference of sex development","classifications":[147,185,193]}],"children":[{"orpha":98078,"name":"46,XX difference of sex development induced by androgens excess","type":"Category"},{"orpha":325055,"name":"46,XX disorder of gonadal development","type":"Category"},{"orpha":325109,"name":"Syndrome with 46,XX difference of sex development","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}