cortisone reductase deficiency 2 (DOID:0090140)
Alliance: disease page
Synonyms: CORTRD2
Alt IDs: OMIM:614662, NCI:C131084
Definition: A cortisone reductase deficiency that is characterized by a failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the 11-beta-hydroxysteroid dehydrogenase type I (HSD11B1) gene on chromosome 1q32.