| Disease ID | Source | Name | Description |
| 250790 | OMIM | Methemoglobinemia and ambiguous genitalia (METAG) | An autosomal recessive disorder characterized by sex steroid deficiency but normal glucocorticoid and mineralocorticoid reserve, male undermasculinization, absent or disturbed pubertal development, decreased levels of erythrocyte cytochrome B5, and excessive amounts of methemoglobin in blood cells resulting in cyanosis and hypoxia. The disease is caused by variants affecting the gene represented in this entry. |