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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 16091
    physical disorder 2462
      congenital heart disease 1057
        Short QT Syndrome 3 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 3 1
paths to the root