Summary Literature (0)

DOID:0090121 - apparent mineralocorticoid excess

Disease Ontology Definition:An adrenal gland hyperfunction 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, APE, Ulick syndrome, cortisol 11-beta-ketoreductase deficiency,

Echinobase Genes :


OMIM:

MIM:218030 - apparent mineralocorticoid excess; ame

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee