Mineralocorticoid Excess Syndrome, Apparent
Disease ID: disease_node_11193
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| Dbxref | GARD:433, MESH:D043204, MIM:218030, NCI:C123231, ORDO:320, SNOMEDCT_US_2023_03_01:237770005, UMLS_CUI:C0342488 |
|---|---|
| Subclassof | DOID_1701 |
| Data Source | DOID, MESH |
| Synonyms | 11-beta-hydroxysteroid dehydrogenase deficiency type 2, Ulick syndrome, cortisol 11-beta-ketoreductase deficiency, syndrome of apparent mineralocorticoid excess |
| Mesh Id | D043204 |
| Mesh Label | Mineralocorticoid Excess Syndrome, Apparent |
| Mesh Subclassof | D043202 |
| Doid Label | apparent mineralocorticoid excess syndrome |
| Doid Description | A steroid inherited metabolic disorder characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and early-onset severe hypertension that has_material_basis_in homozygous or compound heterozygous mutation in the HSD11B2 gene on chromosome 16. |
| Disease Node Id | disease_node_11193 |
| Doid Id | DOID_4367 |
| Disease Has Basis In | SO_0001537 |
| Label | Mineralocorticoid Excess Syndrome, Apparent |
| Doid Alternate Ids | DOID_0090121 |
- Outgoing r'ship
SUBCLASS_OFto/from Steroid Metabolism, Inborn Errors(ID:disease_node_11191) (Disease)