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Disease Ontology Browser
apparent mineralocorticoid excess syndrome (DOID:4367)
Alliance: disease page
Synonyms: 11-beta-hydroxysteroid dehydrogenase deficiency type 2; cortisol 11-beta-ketoreductase deficiency; syndrome of apparent mineralocorticoid excess; Ulick syndrome
Alt IDs: OMIM:218030, MESH:D043204, NCI:C123231, ORDO:320, UMLS_CUI:C0342488
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory