| Disease ID | Source | Name | Description |
| 139300 | OMIM | Aromatase excess syndrome (AEXS) | An autosomal dominant disorder characterized by increased extraglandular aromatization of steroids that presents with heterosexual precocity in males and isosexual precocity in females. The disease is caused by variants affecting the gene represented in this entry. |
| 613546 | OMIM | Aromatase deficiency (AROD) | A rare disease in which fetal androgens are not converted into estrogens due to placental aromatase deficiency. Thus, pregnant women exhibit a hirsutism, which spontaneously resolves after post-partum. At birth, female babies present with pseudohermaphroditism due to virilization of extern genital organs. In adult females, manifestations include delay of puberty, breast hypoplasia and primary amenorrhoea with multicystic ovaries. The disease is caused by variants affecting the gene represented in this entry. |