| Disease ID | Source | Name | Description |
| 233420 | OMIM | 46,XY sex reversal 7 (SRXY7) | A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females. SRXY7 patients have no functional gonads. The disease may be caused by variants affecting the gene represented in this entry. |
| 607080 | OMIM | Partial gonadal dysgenesis with minifascicular neuropathy 46,XY (PGD) | Characterized by the presence of a testis on one side and a streak or an absent gonad at the other, persistence of Muellerian duct structures, and a variable degree of genital ambiguity. The disease may be caused by variants affecting the gene represented in this entry. |