{"orpha":325109,"name":"Syndrome with 46,XX difference of sex development","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Syndrome with 46,XX DSD","Syndrome with 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-325109/","orphanet_url":"https://www.orpha.net/en/disease/detail/325109","names":{"fr":{"name":"Syndrome avec une différence du développement sexuel 46,XX","synonyms":["Syndrome avec une anomalie du développement sexuel 46,XX","Syndrome avec ADS 46,XX","Syndrome avec DSD 46,XX"]},"de":{"name":"Syndrome mit Störung der Geschlechtsentwicklung 46,XX","synonyms":["Syndrome mit 46,XX-DSD"]},"es":{"name":"Síndrome con desarrollo sexual diferente 46,XX","synonyms":["Síndrome con DSD 46,XX","Síndrome con trastorno del desarrollo sexual 46,XX"]},"it":{"name":"Sindrome associata al disturbo dello sviluppo sessuale 46,XX","synonyms":["Sindrome associata a DSD 46,XX"]},"nl":{"name":"Syndroom met 46,XX-geslachtsontwikkelingsstoornis","synonyms":["Syndroom met 46,XX-DSD"]},"pt":{"name":"Síndrome com doença do desenvolvimento sexual 46,XX"},"pl":{"name":"Zespół z zaburzeniem różnicowania płci z kariotypem 46,XX","synonyms":["Zespół ZRP 46,XX"]},"cs":{"name":"Syndrom 46,XX poruchy pohlavního vývoje","synonyms":["Syndrom 46,XX DSD"]},"uk":{"name":"Синдром 46,XX з порушенням статевої диференціації","synonyms":["Синдром з 46,XX порушенням статевого розвитку","Синдром з 46,XX ПСР"]},"zh":{"name":"46，XX性发育障碍综合征","synonyms":["46,XXDSD综合征"]},"tr":{"name":"46, XX cinsiyet gelişim bozukluğu ile seyreden sendromu","synonyms":["46, XX DSD ile seyreden sendrom"]}},"xrefs":[{"source":"MONDO","code":"17965","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679873","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":2982,"name":"46,XX difference of sex development","classifications":[147,185,193]},{"orpha":325697,"name":"Genetic 46,XX difference of sex development","classifications":[156]}],"children":[{"orpha":2973,"name":"46,XX difference of sex development-anorectal anomalies syndrome","type":"Malformation syndrome"},{"orpha":2975,"name":"46,XX difference of sex development-skeletal anomalies syndrome","type":"Malformation syndrome"},{"orpha":137631,"name":"Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome","type":"Disease"},{"orpha":247768,"name":"Müllerian aplasia and hyperandrogenism","type":"Malformation syndrome"},{"orpha":991,"name":"PAGOD syndrome","type":"Malformation syndrome"},{"orpha":85112,"name":"Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome","type":"Disease"},{"orpha":2855,"name":"Perrault syndrome","type":"Disease"},{"orpha":139466,"name":"SERKAL syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}