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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:catecholaminergic polymorphic ventricular tachycardia 4
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Accession:DOID:0060678 term browser browse the term
Definition:A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the CALM1 gene on chromosome 14q32. (DO)
Synonyms:exact_synonym: CPVT4;   CVPT4
 primary_id: OMIM:614916
 alt_id: RDO:9000854
For additional species annotation, visit the Alliance of Genome Resources.


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catecholaminergic polymorphic ventricular tachycardia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calm1 calmodulin 1 ISO ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 4 OMIM
ClinVar
PMID:23040497, PMID:23388215, PMID:23663249, PMID:24563457, PMID:24816216, PMID:24958779, PMID:25557436, PMID:25741868, PMID:26164367, PMID:26309258, PMID:26969752, PMID:27165696, PMID:27374306, PMID:27927985, PMID:28158429, PMID:28492532 NCBI chr 6:124,217,241...124,225,292
Ensembl chr 6:124,217,241...124,225,292
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      cardiovascular system disease 4478
        heart disease 2664
          heart conduction disease 299
            catecholaminergic polymorphic ventricular tachycardia 23
              catecholaminergic polymorphic ventricular tachycardia 4 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
                  catecholaminergic polymorphic ventricular tachycardia 4 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.