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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 Vessel Anomalies
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Accession:DOID:9000018 term browser browse the term
Definition:Malformations of CORONARY VESSELS, either arteries or veins. Included are anomalous origins of coronary arteries; ARTERIOVENOUS FISTULA; CORONARY ANEURYSM; MYOCARDIAL BRIDGING; and others.
Synonyms:exact_synonym: Coronary Vessel Anomaly
 primary_id: MESH:D003330;   RDO:0005281
For additional species annotation, visit the Alliance of Genome Resources.


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Coronary Vessel Anomalies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gclc glutamate-cysteine ligase, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:12598062 NCBI chr 8:78,629,899...78,668,547
Ensembl chr 8:78,630,127...78,668,544 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    Developmental Disease 12879
      congenital heart disease 1191
        Coronary Vessel Anomalies 1
          Myocardial Bridging 0
          Spontaneous Coronary Artery Dissection 0
          anomalous left coronary artery from the pulmonary artery 0
Path 2
Term Annotations click to browse term
  disease 18133
    Developmental Disease 12879
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11579
        Congenital Abnormalities 6706
          Cardiovascular Abnormalities 1253
            congenital heart disease 1191
              Coronary Vessel Anomalies 1
                Myocardial Bridging 0
                Spontaneous Coronary Artery Dissection 0
                anomalous left coronary artery from the pulmonary artery 0
paths to the root