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About: apparent mineralocorticoid excess syndrome     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • apparent mineralocorticoid excess syndrome
described by
id
  • DOID:4367
has_alternative_id
  • DOID:0090121
database_cross_reference
  • GARD:433
  • MESH:D043204
  • NCI:C123231
  • OMIM:218030
  • ORDO:320
  • SNOMEDCT_US_2021_09_01:237770005
  • UMLS_CUI:C0342488
has_exact_synonym
  • Ulick syndrome (en)
  • 11-beta-hydroxysteroid dehydrogenase deficiency type 2 (en)
  • cortisol 11-beta-ketoreductase deficiency (en)
  • syndrome of apparent mineralocorticoid excess (en)
has_obo_namespace
  • disease_ontology
in_subset
http://purl.obolib...g/obo/IAO_0000115
  • 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.
is topic of
is annotatedSource of
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