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ONTOLOGY REPORT - ANNOTATIONS


Term:long QT syndrome 3
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Accession:DOID:0110646 term browser browse the term
Definition:A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SCN5A gene on chromosome 3p22.2. (DO)
Synonyms:exact_synonym: LQT3;   Long QT Syndrome Type 3
 narrow_synonym: LONG QT SYNDROME 2/3, DIGENIC;   LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO;   LONG QT SYNDROME 3/6, DIGENIC;   LQT2/3, DIGENIC;   LQT3/6, DIGENIC
 primary_id: MESH:C537034;   MESH:C565840
 alt_id: OMIM:603830;   RDO:0002791;   RDO:0014375
 xref: GARD:3286
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long QT syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 JBrowse link 11 32,434,786 32,447,264 RGD:8554872
G Kcnh2 potassium voltage-gated channel subfamily H member 2 JBrowse link 4 7,355,066 7,387,282 RGD:8554872
G Scn5a sodium voltage-gated channel alpha subunit 5 JBrowse link 8 128,169,191 128,266,681 RGD:7240710
RGD:8554872
RGD:13831293
RGD:11554173

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  disease 14924
    syndrome 4713
      long QT syndrome 176
        long QT syndrome 3 3
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  disease 14924
    Developmental Diseases 7770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7092
        Congenital Abnormalities 3188
          Cardiovascular Abnormalities 781
            congenital heart disease 730
              long QT syndrome 176
                long QT syndrome 3 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.