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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:Aortic Aneurysm, Giant Congenital
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Accession:DOID:9002883 term browser browse the term
Synonyms:primary_id: MESH:C565758


show annotations for term's descendants           Sort by:
Aortic Aneurysm, Giant Congenital term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Aortic aneurysm, giant congenital ClinVar PMID:4386970 PMID:5771505 PMID:16372351 PMID:16523510 PMID:16804887 More... NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
PHACE Association term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: PHACES association ClinVar PMID:4386970 PMID:5771505 PMID:16372351 PMID:16523510 PMID:16804887 More... NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    disease of anatomical entity 18265
      cardiovascular system disease 5423
        vascular disease 4025
          Aneurysm 254
            aortic aneurysm 220
              Aortic Aneurysm, Giant Congenital 1
                PHACE Association 1
Path 2
Term Annotations click to browse term
  disease 18970
    disease of anatomical entity 18265
      cardiovascular system disease 5423
        vascular disease 4025
          artery disease 2829
            aortic disease 796
              aortic aneurysm 220
                Aortic Aneurysm, Giant Congenital 1
                  PHACE Association 1
paths to the root