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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 Valve Disease 3
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Accession:DOID:9004010 term browser browse the term
Synonyms:exact_synonym: AOVD3
 primary_id: OMIM:618496
For additional species annotation, visit the Alliance of Genome Resources.


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Aortic Valve Disease 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Robo4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: AORTIC VALVE DISEASE 3 OMIM
ClinVar
PMID:30455415 NCBI chr 8:39,082,693...39,093,344
Ensembl chr 8:39,083,327...39,093,277
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      congenital heart disease 1074
        Aortic Valve Disease 3 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      cardiovascular system disease 4484
        vascular disease 3415
          artery disease 2364
            aortic disease 603
              aortic valve disease 309
                bicuspid aortic valve disease 21
                  Aortic Valve Disease 3 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.