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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
 alt_id: RDO:0014445
For additional species annotation, visit the Alliance of Genome Resources.


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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:15940697 PMID:25741868 NCBI chr 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      cardiovascular system disease 4371
        vascular disease 3309
          artery disease 2368
            coronary artery disease 468
              Medial Coronary Sclerosis of Infancy 1
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      cardiovascular system disease 4371
        vascular disease 3309
          ischemia 1283
            Myocardial Ischemia 804
              Coronary Disease 492
                coronary artery disease 468
                  Medial Coronary Sclerosis of Infancy 1
paths to the root