{"orpha":98087,"name":"Syndrome with 46,XY difference of sex development","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Syndrome with 46,XY DSD","Syndrome with 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-98087/","orphanet_url":"https://www.orpha.net/en/disease/detail/98087","names":{"fr":{"name":"Syndrome avec différence du développement sexuel 46,XY","synonyms":["Syndrome avec ADS 46,XY","Syndrome avec DSD 46,XY","Syndrome avec anomalie du développement sexuel 46,XY"]},"de":{"name":"Syndrome mit Störung der Geschlechtsentwicklung 46,XY","synonyms":["Syndrome mit 46,XY-DSD"]},"es":{"name":"Síndrome con desarrollo sexual diferente 46,XY","synonyms":["Síndrome con DSD 46,XY","Síndrome con trastorno del desarrollo sexual 46,XY"]},"it":{"name":"Sindrome associata a disturbo dello sviluppo sessuale 46,XY","synonyms":["Sindrome associata a DSD 46,XY"]},"nl":{"name":"Syndroom met 46,XY-geslachtsontwikkelingsstoornis","synonyms":["Syndroom met 46,XY-DSD"]},"pt":{"name":"Síndrome com doença do desenvolvimento sexual 46,XY","synonyms":["Anomalia disgenética do desenvolvimento sexual 46,XY"]},"pl":{"name":"Zespół z zaburzeniem różnicowania płci o kariotypie 46,XY","synonyms":["Zespół z 46,XY ZRP"]},"cs":{"name":"Syndrom s 46,XY poruchou sexuálního vývoje","synonyms":["Syndrom s 46,XY DSD"]},"uk":{"name":"Синдром з порушенням статевої диференціації 46,XY","synonyms":["Синдром з 46,XY порушенням статевого розвитку","Синдром з 46,XY ПСР"]},"zh":{"name":"46,XY性发育异常综合征","synonyms":["伴46,XY DSD的综合征"]},"tr":{"name":"46, XY cinsiyet gelişim bozukluğu sendromu","synonyms":["46, XY DSD ile seyreden sendrom"]}},"xrefs":[{"source":"UMLS","code":"C5680224","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98085,"name":"46,XY difference of sex development","classifications":[147,185,193]},{"orpha":325706,"name":"Genetic 46,XY difference of sex development","classifications":[156]}],"children":[{"orpha":168563,"name":"46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome","type":"Malformation syndrome"},{"orpha":140,"name":"Campomelic dysplasia","type":"Malformation syndrome"},{"orpha":1422,"name":"Chondrodysplasia-difference of sex development syndrome","type":"Malformation syndrome"},{"orpha":220,"name":"Denys-Drash syndrome","type":"Disease"},{"orpha":2983,"name":"Difference of sex development-intellectual disability syndrome","type":"Disease"},{"orpha":1642,"name":"Distal deletion 9p syndrome","type":"Malformation syndrome"},{"orpha":2282,"name":"Dysmorphism-short stature-deafness-difference of sex development syndrome","type":"Malformation syndrome"},{"orpha":95700,"name":"Familial adrenal hypoplasia with absent pituitary luteinizing hormone","type":"Disease"},{"orpha":347,"name":"Frasier syndrome","type":"Disease"},{"orpha":2075,"name":"Genitopalatocardiac syndrome","type":"Malformation syndrome"},{"orpha":494433,"name":"MIRAGE syndrome","type":"Disease"},{"orpha":3097,"name":"Meacham syndrome","type":"Malformation syndrome"},{"orpha":991,"name":"PAGOD syndrome","type":"Malformation syndrome"},{"orpha":168593,"name":"Sudden infant death-dysgenesis of the testes syndrome","type":"Malformation syndrome"},{"orpha":893,"name":"WAGR syndrome","type":"Malformation syndrome"},{"orpha":847,"name":"X-linked alpha-thalassemia-intellectual disability syndrome","type":"Malformation syndrome"},{"orpha":452,"name":"X-linked lissencephaly with abnormal genitalia","type":"Malformation syndrome"},{"orpha":456328,"name":"X-linked myotubular myopathy-abnormal genitalia syndrome","type":"Disease"},{"orpha":1770,"name":"XY type gonadal dysgenesis-associated anomalies syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}