| Disease ID | Source | Name | Description |
| 300200 | OMIM | Adrenal hypoplasia, congenital (AHC) | A disorder of adrenal gland development characterized by absence of the permanent zone of the adrenal cortex, structural disorganization of the adrenal glands, adrenal insufficiency and profound hormonal deficiencies. AHC patients manifest primary adrenal failure usually in early infancy, and hypogonadotropic hypogonadism leading to absent or incomplete sexual maturation. AHC can be inherited in an X-linked or autosomal recessive pattern. The disease is caused by variants affecting the gene represented in this entry. |
| 300018 | OMIM | 46,XY sex reversal 2 (SRXY2) | 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. XY individuals with a duplication of part of the short arm of the X chromosome and an intact SRY gene develop as females. The single X chromosome in these individuals does not undergo X-chromosome inactivation; therefore, these individuals presumably carry 2 active copies of genes, including the NR0B1 gene, in the duplicated region. Individuals with deletion of this region develop as males. Genes within the dosage-sensitive sex reversal region are, therefore, not essential for testis development, but, when present in a double dose, interfere with testis formation. |