OBO ID: DOID:0090140
Term Name: cortisone reductase deficiency 2 Search Ontology:
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 )
OTHER cortisone reductase deficiency 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HSD11B1 Cortisone reductase deficiency 2
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None