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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


show annotations for term's descendants           Sort by:
Diastolic Dysfunction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acacb acetyl-CoA carboxylase beta ISO RGD PMID:27693463 RGD:329955570 NCBI chr12:42,365,800...42,477,651
Ensembl chr12:42,366,548...42,457,655 		JBrowse link
G Lepr leptin receptor treatment IAGP DNA:mutations:cds: : (rat)
compared to lean leptin receptor sufficient littermates ZSF1-Leprlean/Crl (RS:0005317)		 RGD PMID:33568522 PMID:32710530 PMID:28746409 RGD:401965412, RGD:401960103, RGD:401965413 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908 		JBrowse link
G Ndufb5 NADH:ubiquinone oxidoreductase subunit B5 IEP associated with obesity;mRNA, protein:decreased expression:myocardium RGD PMID:26790384 RGD:13801193 NCBI chr 2:115,519,248...115,533,589
Ensembl chr 2:115,519,154...115,533,589 		JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Diastolic dysfunction ClinVar PMID:25741868 PMID:28492532 NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Diastolic dysfunction ClinVar NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19047
    disease of anatomical entity 18381
      cardiovascular system disease 5519
        Diastolic Dysfunction 10
paths to the root