Term Name: cortisone reductase deficiency 2
Synonyms: CORTRD2
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.
Ontology: Human Disease [DOID:0090140]   ( DOID:0090140 )

Relationships
is a type of: autosomal dominant disease cortisone reductase deficiency