RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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. (DO)
Synonyms:
exact_synonym:
11-beta-hydroxysteroid dehydrogenase deficiency type 2; AME; AME1; Ulick syndrome; apparent mineralocorticoid excess; cortisol 11-beta-ketoreductase deficiency; syndrome of apparent mineralocorticoid excess
ClinVar Annotator: match by term: Apparent mineralocorticoid excess | ClinVar Annotator: match by term: Apparent mineralocorticoid excess, mild | ClinVar Annotator: match by term: Cortisol 11-beta-ketoreductase deficiency CTD Direct Evidence: marker/mechanism