Cortisone Reductase Deficiency 2
Disease ID: disease_node_17242
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| Dbxref | MIM:614662, NCI:C131084 |
|---|---|
| Subclassof | DOID_0050736, DOID_0090139 |
| Data Source | DOID |
| Synonyms | CORTRD2 |
| Doid Label | cortisone reductase deficiency 2 |
| Doid Description | 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 domit inheritance of heterozygous mutation in the 11-beta-hydroxysteroid dehydrogenase type I (HSD11B1) gene on chromosome 1q32. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_17242 |
| Doid Id | DOID_0090140 |
| Label | Cortisone Reductase Deficiency 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)