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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 1
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Accession:DOID:9005764 term browser browse the term
Synonyms:exact_synonym: SHORT QT SYNDROME TYPE 1;   SQT1
 primary_id: MESH:C566506
 alt_id: OMIM:609620;   RDO:0014840
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Short QT Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Short QT syndrome type 1
OMIM
CTD
ClinVar
PMID:9544837 PMID:10187793 PMID:10220144 PMID:10483966 PMID:10862094 More... NCBI chr 4:10,826,834...10,859,009
Ensembl chr 4:10,826,928...10,859,008
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    physical disorder 4115
      congenital heart disease 1191
        Short QT Syndrome 1 1
Path 2
Term Annotations click to browse term
  disease 18133
    Developmental Disease 12879
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11579
        Congenital Abnormalities 6706
          Cardiovascular Abnormalities 1253
            congenital heart disease 1191
              Short QT Syndrome 1 1
paths to the root