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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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      congenital heart disease 1074
        Aortic Valve Disease 3 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      cardiovascular system disease 4413
        vascular disease 3342
          artery disease 2385
            aortic disease 610
              aortic valve disease 310
                bicuspid aortic valve disease 20
                  Aortic Valve Disease 3 1
paths to the root