OBO ID: DOID:0090140 |
Term Name: | cortisone reductase deficiency 2 | Search Ontology: | |
---|---|---|---|
Synonyms: |
|
||
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
Your Input Welcome
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if
additional information is required.
Oops. Something went wrong. Please try again later.