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RGD DISEASE ONTOLOGY - ANNOTATIONS

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.
Term:apparent mineralocorticoid excess syndrome
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Accession:DOID:4367 term browser browse the term
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. (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
 narrow_synonym: apparent mineralocorticoid excess, mild
 primary_id: MESH:D043204
 alt_id: DOID:0090121;   MIM:218030
 xref: EFO:1000817;   GARD:433;   NCI:C123231;   ORDO:320
For additional species annotation, visit the Alliance of Genome Resources.


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apparent mineralocorticoid excess syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 ISO 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		 OMIM
ClinVar
CTD		 PMID:3860318 PMID:7593456 PMID:7608290 PMID:7670488 PMID:9398712 More... NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899 		JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15521956 NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19057
    syndrome 11177
      apparent mineralocorticoid excess syndrome 2
Path 2
Term Annotations click to browse term
  disease 19057
    Developmental Disease 14528
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13541
        genetic disease 13203
          inherited metabolic disorder 6602
            lipid metabolism disorder 1899
              steroid inherited metabolic disorder 64
                apparent mineralocorticoid excess syndrome 2
paths to the root