| Disease ID | Source | Name | Description |
| 614662 | OMIM | Cortisone reductase deficiency 2 (CORTRD2) | An autosomal dominant error of cortisone metabolism characterized by a failure to regenerate cortisol from cortisone, resulting in increased cortisol clearance, activation of the hypothalamic- pituitary axis and ACTH-mediated adrenal androgen excess. Clinical features include hyperandrogenism resulting in hirsutism, oligo- amenorrhea, and infertility in females and premature pseudopuberty in males. The disease is caused by variants affecting the gene represented in this entry. |