46,XY ovotesticular disorder of sex development https://github.com/monarch-initiative/mondo/issues/6651 https://github.com/monarch-initiative/mondo/issues/6753 https://github.com/monarch-initiative/mondo/issues/6876 https://www.malacards.org/card/46xy_ovotesticular_difference_of_sex_development Orphanet:325345 UMLS:C2697358 MEDGEN:394582 46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous, but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumors are frequently associated. GARD:0021469 46,XY ovotesticular DSD SCTID:763683004 MONDO:0017968 46,XY disorder of sex development