|
DOID:4367 - apparent mineralocorticoid excess syndrome
Disease Ontology 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.
Synonyms: 11-beta-hydroxysteroid dehydrogenase deficiency type 2, Ulick syndrome, cortisol 11-beta-ketoreductase deficiency, syndrome of apparent mineralocorticoid excess, syndrome of apparent mineralocorticoid excess (disorder),
Xenbase Genes
:
hsd11b2
| MONDO:0006657 - obsolete apparent mineralocorticoid excess syndrome |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee