{"orpha":98085,"name":"46,XY difference of sex development","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["46,XY DSD","46,XY 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-98085/","orphanet_url":"https://www.orpha.net/en/disease/detail/98085","names":{"fr":{"name":"Différence du développement sexuel 46,XY","synonyms":["46,XY DSD","ADS 46,XY","Anomalie du développement sexuel 46,XY"]},"de":{"name":"Störung der Geschlechtsentwicklung 46,XY","synonyms":["46,XY-DSD"]},"es":{"name":"Desarrollo sexual diferente 46,XY","synonyms":["DSD 46,XY","Trastorno del desarrollo sexual 46,XY"]},"it":{"name":"Disturbo dello sviluppo sessuale 46,XY","synonyms":["DSD 46,XY"]},"nl":{"name":"46,XY-geslachtsontwikkelingsstoornis","synonyms":["46,XY-DSD"]},"pt":{"name":"Doença do desenvolvimento sexual 46,XY"},"pl":{"name":"Zaburzenie różnicowania płci o kariotypie 46,XY","synonyms":["46,XY ZRP"]},"cs":{"name":"46,XY porucha sexuálního vývoje","synonyms":["46,XY DSD"]},"uk":{"name":"46,XY порушення статевої диференціації","synonyms":["46,XY порушення статевого розвитку","46,XY ПСР"]},"zh":{"name":"46,XY性发育异常","synonyms":["46,XY DSD"]},"tr":{"name":"46, XY cinsiyet gelişim bozukluğu","synonyms":["46, XY DSD"]}},"xrefs":[{"source":"MONDO","code":"0020040","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D058490","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2751824","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8538","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":325351,"name":"46,XY difference of sex development of endocrine origin","type":"Category"},{"orpha":325118,"name":"46,XY disorder of gonadal development","type":"Category"},{"orpha":49,"name":"Penile agenesis","type":"Morphological anomaly"},{"orpha":98087,"name":"Syndrome with 46,XY difference of sex development","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.06,"area":"Denmark","status":"Validated","source":"27603905[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":6.4,"area":"Denmark","status":"Validated","source":"27603905[PMID]"}],"phenotypes":null}