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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: SQT1
 primary_id: MESH:C566506
 alt_id: OMIM:609620;   RDO:0014840
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by OMIM:609620
ClinVar Annotator: match by term: Short QT syndrome 1
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9544837 PMID:10220144 PMID:10483966 PMID:10862094 PMID:10973849 PMID:11173780 PMID:11222472 PMID:11468227 PMID:11524404 PMID:11668638 PMID:11854117 PMID:12402336 PMID:12566525 PMID:12925462 PMID:14661677 PMID:14676148 PMID:14720170 PMID:14998624 PMID:15051636 PMID:15176425 PMID:15466642 PMID:15828882 PMID:15840476 PMID:16379539 PMID:16414944 PMID:16432067 PMID:16754261 PMID:16818214 PMID:16922724 PMID:17161064 PMID:17224687 PMID:17905336 PMID:18441445 PMID:18724381 PMID:18776039 PMID:18808722 PMID:19088443 PMID:19160088 PMID:19439805 PMID:19490267 PMID:19501051 PMID:19716085 PMID:19731233 PMID:19841300 PMID:19862833 PMID:20659946 PMID:21350584 PMID:22052944 PMID:22067087 PMID:22194679 PMID:22402334 PMID:22429796 PMID:22573844 PMID:22581653 PMID:22677073 PMID:22949429 PMID:23098067 PMID:23303164 PMID:23631430 PMID:23861362 PMID:24033266 PMID:24606995 PMID:24973560 PMID:25348405 PMID:25417810 PMID:25649125 PMID:25741868 PMID:26063740 PMID:26164358 PMID:26187847 PMID:26496715 PMID:26704558 PMID:26743238 PMID:26958806 PMID:27650965 PMID:28003625 PMID:28255936 PMID:28431243 PMID:28492532 PMID:28988457 PMID:29544605 PMID:29574456 PMID:29622001 PMID:29752375 PMID:29884292 PMID:30246897 PMID:30758498 PMID:30996762 PMID:31358886 PMID:31539150 PMID:31557540 NCBI chr 4:7,355,066...7,387,282
Ensembl chr 4:7,355,574...7,387,253
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    physical disorder 2462
      congenital heart disease 1057
        Short QT Syndrome 1 1
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        Congenital Abnormalities 4721
          Cardiovascular Abnormalities 1109
            congenital heart disease 1057
              Short QT Syndrome 1 1
paths to the root