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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:Long QT Syndrome 16
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Accession:DOID:9007211 term browser browse the term
Synonyms:exact_synonym: LQT16
 narrow_synonym: CPVT6;   catecholaminergic polymorphic ventricular tachycardia 6
 primary_id: OMIM:618782
For additional species annotation, visit the Alliance of Genome Resources.


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Long QT Syndrome 16 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calm3 calmodulin 3 ISO ClinVar Annotator: match by term: LONG QT SYNDROME 16 OMIM
ClinVar
PMID:25460178 NCBI chr 1:78,844,520...78,851,628
Ensembl chr 1:78,843,080...78,851,719
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    syndrome 6993
      long QT syndrome 251
        Long QT Syndrome 16 1
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      cardiovascular system disease 4478
        heart disease 2664
          Cardiac Arrhythmias 592
            Tachycardia 84
              Ventricular Tachycardia 56
                catecholaminergic polymorphic ventricular tachycardia 23
                  Long QT Syndrome 16 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.