Human genes for apparent mineralocorticoid excess syndrome
Apparent mineralocorticoid excess syndrome [DOID:4367]
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: apparent mineralocorticoid excess syndrome, apparent mineralocorticoid excess disease, apparent mineralocorticoid excess disorder, apparent mineralocorticoid excess syndromes, DOID:4367 ...