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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:Generalized Arterial Calcification of Infancy, 2
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Accession:DOID:9000524 term browser browse the term
Synonyms:exact_synonym: GACI2
 primary_id: OMIM:614473


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Generalized Arterial Calcification of Infancy, 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc6 ATP-binding cassette, sub-family C member 6 ISO ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 2 OMIM
ClinVar		 PMID:9536098 PMID:10811882 PMID:10835642 PMID:10835643 PMID:10954200 More... NCBI chr 7:45,625,804...45,679,915
Ensembl chr 7:45,616,979...45,679,726 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16121
    disease of anatomical entity 15680
      cardiovascular system disease 4568
        vascular disease 3244
          artery disease 2113
            arterial calcification of infancy 4
              Generalized Arterial Calcification of Infancy, 2 1
Path 2
Term Annotations click to browse term
  disease 16121
    Nutritional and Metabolic Diseases 7404
      disease of metabolism 7404
        acquired metabolic disease 2327
          mineral metabolism disease 920
            calcium metabolism disease 600
              calcinosis 531
                Vascular Calcification 23
                  arterial calcification of infancy 4
                    Generalized Arterial Calcification of Infancy, 2 1
paths to the root