| Disease ID | Source | Name | Description |
| 612964 | OMIM | Adrenal insufficiency, NR5A1-related (AINR) | A disorder characterized by adrenal insufficiency, muscular hypotonia, decreased sodium and increased potassium levels, elevated ACTH, salt-wasting crisis, prolonged jaundice, hypoglycemia, and vomiting. The disease is caused by variants affecting the gene represented in this entry. |
| 612964 | OMIM | Adrenal insufficiency, NR5A1-related (AINR) | A disorder characterized by adrenal insufficiency, muscular hypotonia, decreased sodium and increased potassium levels, elevated ACTH, salt-wasting crisis, prolonged jaundice, hypoglycemia, and vomiting. The disease is caused by variants affecting the gene represented in this entry. |
| 617480 | OMIM | 46,XX sex reversal 4 (SRXX4) | 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. |
| 613957 | OMIM | Spermatogenic failure 8 (SPGF8) | An infertility disorder characterized by spermatogenesis failure and severe oligozoospermia. The disease is caused by variants affecting the gene represented in this entry. |
| 612965 | OMIM | 46,XY sex reversal 3 (SRXY3) | A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype. The disease is caused by variants affecting the gene represented in this entry. |