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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 Calcification
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Accession:DOID:9008778 term browser browse the term
Definition:Calcification of coronary arteries involves early deposition of calcium in the formation of an atherosclerotic plaque.
Synonyms:exact_synonym: CAC
 primary_id: RDO:9000026
 xref: EFO:0004643;   EFO:0004723


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Coronary Artery Calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phactr1 phosphatase and actin regulator 1 ISO DNA:SNP:intron:g.13011943A>G (rs9349379) (human)
DNA:SNP:intron: (rs12526453) (human)
associated with type 2 diabetes mellitus;DNA:SNPs:intron: (rs9369640, rs9349379) (human)		 RGD PMID:23394302 PMID:23561647 PMID:26789557 PMID:34241534 RGD:11058683, RGD:11057923, RGD:11054804, RGD:401901247 NCBI chr17:21,560,364...22,040,166
Ensembl chr17:21,562,721...22,039,831 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B severity ISO associated with Kidney Failure, Chronic RGD PMID:22943310 RGD:7205482 NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    syndrome 10887
      hereditary arterial and articular multiple calcification syndrome 13
        Coronary Artery Calcification 2
Path 2
Term Annotations click to browse term
  disease 18976
    Developmental Disease 14397
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13406
        genetic disease 13024
          monogenic disease 10419
            autosomal genetic disease 9577
              autosomal recessive disease 6657
                hereditary arterial and articular multiple calcification syndrome 13
                  Coronary Artery Calcification 2
paths to the root