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Summary Literature (0)
DOID:0090141 - cortisone reductase deficiency 1

Disease Ontology Definition:A cortisone reductase deficiency that is characterized by failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase which requires NADPH regeneration by hexose-6-phosphate dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hexose-6-phosphate dehydrogenase gene (H6PD) on chromosome 1p36.

Synonyms: CORTRD1

Xenbase Genes : hsd11b1, h6pd

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011503 - cortisone reductase deficiency 1


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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), cortisone reductase deficiency (is_a)