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apparent mineralocorticoid excess syndrome

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description An autosomal recessive disorder caused by a deficiency of 11-beta-hydroxysteroid dehydrogenase, which is characterized by hypertension, hypokalemia, low renin, and hypoaldosteronism.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0006657:  apparent mineralocorticoid excess syndrome
EFO:1000817: 
MESH:D043204: 
NCIT:C123231: 
SCTID:237770005: 
UMLS:C0342488: