apparent mineralocorticoid excess syndrome

Summary

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, cortisol 11-beta-ketoreductase deficiency, syndrome of apparent mineralocorticoid excess, syndrome of apparent mineralocorticoid excess (disorder), Ulick syndrome

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: hsd11b2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0006657 - obsolete apparent mineralocorticoid excess syndrome

MONDO:0006657 - obsolete apparent mineralocorticoid excess syndrome

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

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

Parent(s): genetic disease (is_a), steroid inherited metabolic disorder (is_a)