OBO ID: DOID:4367
Term Name: apparent mineralocorticoid excess syndrome Search Ontology:
Synonyms:
  • 11-beta-hydroxysteroid dehydrogenase deficiency type 2
  • cortisol 11-beta-ketoreductase deficiency
  • syndrome of apparent mineralocorticoid excess
  • Ulick syndrome
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. https://www.omim.org/entry/218030
References:
Ontology: Human Disease   ( DOID:4367 )
Relationships
is a type of:
OTHER apparent mineralocorticoid excess syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HSD11B2 Apparent mineralocorticoid excess 218030
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)
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