steroid inherited metabolic disorder apparent mineralocorticoid excess syndrome UMLS_CUI:C0342488 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. disease_ontology OMIM:218030 ORDO:320 NCI:C123231 GARD:433 MESH:D043204 11-beta-hydroxysteroid dehydrogenase deficiency type 2 DOID:4367 DOID:0090121 SNOMEDCT_US_2020_03_01:237770005 Ulick syndrome cortisol 11-beta-ketoreductase deficiency syndrome of apparent mineralocorticoid excess genetic disease