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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:Medial Coronary Sclerosis of Infancy
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Accession:DOID:9008221 term browser browse the term
Synonyms:primary_id: MESH:C565944



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Medial Coronary Sclerosis of Infancy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Coronary sclerosis, medial, of infancy ClinVar PMID:9536098 PMID:15940697 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21120
    disease of anatomical entity 18195
      cardiovascular system disease 5393
        vascular disease 3999
          artery disease 2812
            coronary artery disease 595
              Medial Coronary Sclerosis of Infancy 1
Path 2
Term Annotations click to browse term
  disease 21120
    disease of anatomical entity 18195
      cardiovascular system disease 5393
        vascular disease 3999
          ischemia 1496
            Myocardial Ischemia 944
              Coronary Disease 621
                coronary artery disease 595
                  Medial Coronary Sclerosis of Infancy 1
paths to the root