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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: SQT3
 primary_id: MESH:C566504
 alt_id: OMIM:609622;   RDO:0014838
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by term: Short QT syndrome 3 OMIM
ClinVar		 PMID:8078584 PMID:15761194 PMID:15922306 PMID:16217063 PMID:16818210 More... NCBI chr10:96,060,849...96,071,401
Ensembl chr10:96,060,821...96,071,445 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    physical disorder 3106
      congenital heart disease 1089
        Short QT Syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 17286
    Developmental Disease 10988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9531
        Congenital Abnormalities 5606
          Cardiovascular Abnormalities 1146
            congenital heart disease 1089
              Short QT Syndrome 3 1
paths to the root