cortisone reductase deficiency 2

Summary

DOID:0090140 - cortisone reductase deficiency 2

Disease Ontology 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.

Synonyms: CORTRD2

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: hsd11b1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013842 - cortisone reductase deficiency 2

MONDO:0013842 - cortisone reductase deficiency 2

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), cortisone reductase deficiency (is_a)