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DO Term : apparent mineralocorticoid excess syndrome [DOID:4367] Disease Ontology

Namespace  disease_ontology Obsolete  false
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.
  • synonyms:
  • cortisol 11-beta-ketoreductase deficiency,
  • UMLS_CUI:C0342488,
  • ORDO:320,
  • GARD:433,
  • SNOMEDCT_US_2023_03_01:237770005,
  • Ulick syndrome,
  • 218030,
  • OMIM:218030,
  • DOID:0090121,
  • 11-beta-hydroxysteroid dehydrogenase deficiency type 2,
  • NCI:C123231,
  • MESH:D043204,
  • syndrome of apparent mineralocorticoid excess
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