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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 1
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Accession:DOID:0080333 term browser browse the term
Definition:A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the NOTCH1 gene on chromosome 9q34. (DO)
Synonyms:exact_synonym: AOVD1;   BAV;   calcific aortic stenosis;   calcific aortic valve disease;   calcification of aortic valve
 primary_id: OMIM:109730
 xref: NCI:C128803
For additional species annotation, visit the Alliance of Genome Resources.



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aortic valve disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: AORTIC VALVE DISEASE 1 ClinVar PMID:25741868 PMID:28492532 PMID:30858776 PMID:31903434 NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588
JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IEP mRNA:increased expression:aorta (rat) RGD PMID:22659116 RGD:12914785 NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
JBrowse link
G Gata5 GATA binding protein 5 ISO ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar NCBI chr 3:167,418,563...167,426,751
Ensembl chr 3:167,418,565...167,426,751
JBrowse link
G Il6 interleukin 6 severity ISO RGD PMID:23969418 RGD:12792206 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Notch1 notch receptor 1 ISO DNA:nonsense mutation, deletion:cds:p.R1108X, p.H1505Xfs (human)
ClinVar Annotator: match by term: Aortic valve disease 1
ClinVar Annotator: match by term: AORTIC VALVE DISEASE 1
ClinVar Annotator: match by OMIM:109730
ClinVar
OMIM
RGD
PMID:9536098 PMID:16025100 PMID:16729972 PMID:17576681 PMID:18593716 More... RGD:1580758 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:28492532 PMID:30796334 NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763
JBrowse link
G Tbx20 T-box transcription factor 20 ISO ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar NCBI chr 8:23,200,104...23,258,218
Ensembl chr 8:23,204,507...23,258,175
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17256
    physical disorder 3094
      congenital heart disease 1083
        aortic valve disease 1 7
Path 2
Term Annotations click to browse term
  disease 17256
    disease of anatomical entity 16600
      cardiovascular system disease 4517
        vascular disease 3436
          artery disease 2401
            aortic disease 612
              aortic valve disease 296
                bicuspid aortic valve disease 18
                  aortic valve disease 1 7
paths to the root