| Disease ID | Source | Name | Description |
| 400045 | OMIM | 46,XX sex reversal 1 (SRXX1) | A condition in which male gonads develop in a genetic female (female to male sex reversal). The disease is caused by variants affecting the gene represented in this entry. |
| 400044 | OMIM | 46,XY sex reversal 1 (SRXY1) | A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype. Patients manifest rapid and early degeneration of their gonads, which are present in the adult as 'streak gonads', consisting mainly of fibrous tissue and variable amounts of ovarian stroma. As a result these patients do not develop secondary sexual characteristics at puberty. The external genitalia in these subjects are completely female, and Muellerian structures are normal. The disease is caused by variants affecting the gene represented in this entry. |