| Metadata | |
|---|---|
| ID | DOID:4367 |
| Name | apparent mineralocorticoid excess syndrome |
| Definition | 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. https://www.omim.org/entry/218030 |
| Xrefs |
SNOMEDCT_US_2023_03_01:237770005 |
| Alternateids |
DOID:0090121 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
11-beta-hydroxysteroid dehydrogenase deficiency type 2 [EXACT] cortisol 11-beta-ketoreductase deficiency [EXACT] syndrome of apparent mineralocorticoid excess [EXACT] Ulick syndrome [EXACT] |
| Parent Relationships |