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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 2
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Accession:DOID:9002374 term browser browse the term
Synonyms:exact_synonym: ADCAD2
 broad_synonym: LRP6-RELATED CONDITION
 primary_id: MESH:C567045
 alt_id: MIM:610947


show annotations for term's descendants           Sort by:
Coronary Artery Disease, Autosomal Dominant 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO ClinVar Annotator: match by term: Coronary artery disease, autosomal dominant 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:25,292,133...25,315,078
Ensembl chr 6:25,292,133...25,319,861 		JBrowse link
G Lrp6 LDL receptor related protein 6 ISO ClinVar Annotator: match by term: Coronary artery disease, autosomal dominant 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17332414 PMID:23703864 PMID:25741868 PMID:28492532 NCBI chr 4:167,269,856...167,400,364
Ensembl chr 4:167,270,353...167,400,497 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      thoracic disease 4048
        heart disease 3472
          Myocardial Ischemia 952
            myocardial infarction 446
              Coronary Artery Disease, Autosomal Dominant 2 2
Path 2
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 0
      cardiovascular system disease 5537
        vascular disease 4020
          ischemia 1503
            Myocardial Ischemia 952
              Coronary Disease 630
                coronary artery disease 604
                  myocardial infarction 446
                    Coronary Artery Disease, Autosomal Dominant 2 2
paths to the root