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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:Diastolic Dysfunction
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Accession:DOID:9003631 term browser browse the term
For additional species annotation, visit the Alliance of Genome Resources.


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Diastolic Dysfunction term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufb5 NADH:ubiquinone oxidoreductase subunit B5 IEP associated with obesity;mRNA, protein:decreased expression:myocardium RGD PMID:26790384 RGD:13801193 NCBI chr 2:119,139,717...119,153,753
Ensembl chr 2:119,139,717...119,153,753
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Diastolic dysfunction ClinVar PMID:25741868 PMID:28492532 NCBI chr17:65,533,998...65,955,606
Ensembl chr17:65,535,403...65,955,606
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Diastolic dysfunction ClinVar NCBI chr 3:63,565,160...63,837,815 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      cardiovascular system disease 4395
        Diastolic Dysfunction 7
paths to the root