FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term apparent mineralocorticoid excess syndrome ID (Ontology) DOID:4367 (Human Disease)
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.
Also Known As "11-beta-hydroxysteroid dehydrogenase deficiency type 2" ; "cortisol 11-beta-ketoreductase deficiency" ; "syndrome of apparent mineralocorticoid excess" (for all, see Synonyms field below)
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 Genes
 apparent mineralocorticoid excess syndrome       2
 for disease ribbon | apparent mineralocorticoid excess syndrome       2
 model of | apparent mineralocorticoid excess syndrome       2
Spanning Tree (Parents/Children)
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  lipid metabolism disorder
   |__steroid inherited metabolic disorder
       |__apparent mineralocorticoid excess syndrome  2 rec.
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Synonyms
  • "11-beta-hydroxysteroid dehydrogenase deficiency type 2" EXACT
    "cortisol 11-beta-ketoreductase deficiency" EXACT
    "syndrome of apparent mineralocorticoid excess" EXACT
    "Ulick syndrome" EXACT
Secondary IDs
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GARD:433
MESH:D043204
MIM:218030
NCI:C123231
ORDO:320
SNOMEDCT_US_2023_03_01:237770005
UMLS_CUI:C0342488