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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:Coronary Artery Disease, Autosomal Dominant 1
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Accession:DOID:9007440 term browser browse the term
Synonyms:exact_synonym: ADCAD1;   CORONARY ARTERY DISEASE/MYOCARDIAL INFARCTION;   Coronary Artery Disease With Myocardial Infarction
 primary_id: MESH:C564258
 alt_id: OMIM:608320



show annotations for term's descendants           Sort by:
Coronary Artery Disease, Autosomal Dominant 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mef2a myocyte enhancer factor 2a ISO ClinVar Annotator: match by term: Coronary artery disease, autosomal dominant, 1 | ClinVar Annotator: match by term: Coronary artery disease/myocardial infarction
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:14645853 PMID:15496429 PMID:15841183 NCBI chr 1:120,847,874...120,982,488
Ensembl chr 1:120,850,080...120,981,948
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      cardiovascular system disease 5404
        heart disease 3320
          Myocardial Ischemia 944
            myocardial infarction 438
              Coronary Artery Disease, Autosomal Dominant 1 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      cardiovascular system disease 5404
        vascular disease 4006
          ischemia 1497
            Myocardial Ischemia 944
              Coronary Disease 621
                coronary artery disease 595
                  myocardial infarction 438
                    Coronary Artery Disease, Autosomal Dominant 1 1
paths to the root