Term Name: | cortisone reductase deficiency 2 |
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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 ) |