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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:0080977 term browser browse the term
Definition:A bicuspid aortic valve disease that is characterized by aortic stenosis and/or bicuspid aortic valve, associated in some patients with aneurysm of the aortic root and/or ascending aorta and that has_material_basis_in heterozygous mutation in the ROBO4 gene on chromosome 11q24. (DO)
Synonyms:exact_synonym: AOVD3
 primary_id: OMIM:618496
 alt_id: DOID:9004010
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 LOC100911068 roundabout homolog 4-like ISO ClinVar Annotator: match by term: Aortic valve disease 3 OMIM
ClinVar
PMID:25741868 PMID:30455415 NCBI chr 8:37,119,966...37,133,887 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    physical disorder 3086
      congenital heart disease 1080
        aortic valve disease 3 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      cardiovascular system disease 4514
        vascular disease 3434
          artery disease 2399
            aortic disease 610
              aortic valve disease 296
                bicuspid aortic valve disease 18
                  aortic valve disease 3 1
paths to the root