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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 8:85,059,051...85,097,471
Ensembl chr 8:85,059,051...85,097,468
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      congenital heart disease 1074
        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 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        Congenital Abnormalities 4759
          Cardiovascular Abnormalities 1129
            congenital heart disease 1074
              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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.