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apparent mineralocorticoid excess syndrome

Go to external page http://purl.obolibrary.org/obo/DOID_4367

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. [ http://purl.obolibrary.org/obo/ECO_0007636 url:https://www.omim.org/entry/218030 ]

Synonyms: syndrome of apparent mineralocorticoid excess cortisol 11-beta-ketoreductase deficiency Ulick syndrome 11-beta-hydroxysteroid dehydrogenase deficiency type 2

This is just here as a test because I lose it

Term information

database cross reference
  • SNOMEDCT_US_2023_03_01:237770005
  • MIM:218030
  • UMLS_CUI:C0342488
  • MESH:D043204
  • GARD:433
  • ORDO:320
  • NCI:C123231
Subsets

DO_rare_slim, NCIthesaurus

has alternative id

DOID:0090121

has obo namespace

disease_ontology

id

DOID:4367