Term Name:	apparent mineralocorticoid excess syndrome
Synonyms:	11-beta-hydroxysteroid dehydrogenase deficiency type 2, cortisol 11-beta-ketoreductase deficiency, syndrome of apparent mineralocorticoid excess, Ulick 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.
Ontology:	Human Disease [DOID:4367]   ( DOID:4367 )