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Human Disease

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
Ontology
Human Disease   ( DOID:0090140 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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