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Metadata
ID	DOID:0090140
Name	cortisone reductase deficiency 2
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. https://www.ncbi.nlm.nih.gov/pubmed/29843121, https://www.omim.org/entry/614662
Xrefs	MIM:614662 NCI:C131084
Subsets	NCIthesaurus
Synonyms	CORTRD2 [EXACT]
Parent Relationships	is_a cortisone reductase deficiency is_a autosomal dominant disease