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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:Short QT Syndrome 3
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Accession:DOID:9001868 term browser browse the term
Synonyms:exact_synonym: SHORT QT SYNDROME TYPE 3;   SQT3
 primary_id: MESH:C566504
 alt_id: MIM:609622


show annotations for term's descendants           Sort by:
Short QT Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Short QT syndrome type 3 		OMIM
CTD
ClinVar		 PMID:8078584 PMID:10206975 PMID:10318782 PMID:11371347 PMID:11841151 More... NCBI chr10:96,560,225...96,570,788
Ensembl chr10:96,565,600...96,570,901 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      short QT syndrome 9
        Short QT Syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      respiratory system disease 5247
        thoracic disease 4057
          heart disease 3483
            heart conduction disease 467
              short QT syndrome 9
                Short QT Syndrome 3 1
paths to the root