Search Ontology:
Human Disease

apparent mineralocorticoid excess syndrome

Term ID
DOID:4367
Synonyms
  • 11-beta-hydroxysteroid dehydrogenase deficiency type 2
  • cortisol 11-beta-ketoreductase deficiency
  • syndrome of apparent mineralocorticoid excess
  • Ulick syndrome
(all 4)
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
(all 7)
Ontology
Human Disease   ( DOID:4367 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Human Gene Zebrafish Ortholog OMIM Term Disease OMIM Phenotype ID
HSD11B2Apparent mineralocorticoid excessapparent mineralocorticoid excess syndrome218030
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Zebrafish Models
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