ONTOLOGY REPORT - ANNOTATIONS


Term:long QT syndrome 2
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Accession:DOID:0110645 term browser browse the term
Definition:A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNH2 gene on chromosome 7q36.1. (DO)
Synonyms:exact_synonym: LONG QT SYNDROME, BRADYCARDIA-INDUCED;   LQT2
 narrow_synonym: LONG QT SYNDROME 1/2, DIGENIC;   LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO;   LONG QT SYNDROME 2/3, DIGENIC;   LONG QT SYNDROME 2/5, DIGENIC;   LONG QT SYNDROME 2/9, DIGENIC;   LQT1/2, DIGENIC;   LQT2/3, DIGENIC;   LQT2/5, DIGENIC;   LQT2/9, DIGENIC
 primary_id: MESH:C563614;   RDO:0012829
 alt_id: OMIM:613688
 xref: GARD:3285
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long QT syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akap9 A-kinase anchoring protein 9 JBrowse link 4 27,195,346 27,331,582 RGD:8554872
G Alg10 ALG10, alpha-1,2-glucosyltransferase JBrowse link 7 131,330,913 131,336,183 RGD:8554872
G Ank2 ankyrin 2 JBrowse link 2 231,224,643 231,522,655 RGD:8554872
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 JBrowse link 11 32,498,260 32,511,202 RGD:8554872
G Kcnh2 potassium voltage-gated channel subfamily H member 2 JBrowse link 4 7,355,066 7,387,282 RGD:7240710
RGD:8554872
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 JBrowse link 1 216,293,087 216,630,339 RGD:8554872
G Scn5a sodium voltage-gated channel alpha subunit 5 JBrowse link 8 128,169,191 128,266,681 RGD:8554872
G Snta1 syntrophin, alpha 1 JBrowse link 3 149,874,023 149,905,980 RGD:8554872

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  disease 14926
    syndrome 4715
      long QT syndrome 176
        long QT syndrome 2 8
Path 2
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  disease 14926
    Developmental Diseases 7774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7096
        Congenital Abnormalities 3200
          Cardiovascular Abnormalities 782
            congenital heart disease 731
              long QT syndrome 176
                long QT syndrome 2 8
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.