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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:15761194, PMID:15922306, PMID:16217063, PMID:16818210, PMID:17211524, PMID:19041665, PMID:19111761, PMID:22308236, PMID:22581653, PMID:22589293, PMID:22806368, PMID:23516313, PMID:23631430, PMID:23644778, PMID:23867365, PMID:24861851, PMID:25410959, PMID:25741868, PMID:25847018, PMID:26467025, PMID:28003625, PMID:28341588, PMID:28492532, PMID:29874177 NCBI chr10:99,429,337...99,442,520
Ensembl chr10:99,437,436...99,439,114
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      congenital heart disease 1074
        Short QT Syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      cardiovascular system disease 4454
        heart disease 2664
          heart conduction disease 300
            short QT syndrome 8
              Short QT Syndrome 3 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.