cortisone reductase deficiency 2

Term ID

DOID:0090140

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. (2)

References

• MIM:614662
• NCI:C131084

Ontology

Human Disease   ( DOID:0090140 )