ONTOLOGY REPORT - ANNOTATIONS


Term:long QT syndrome 9
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Accession:DOID:0110650 term browser browse the term
Definition:A long QT syndrome that has_material_basis_in mutation of the CAV3 gene on chromosome 3p25.3. (DO)
Synonyms:exact_synonym: LQT9;   Long Qt Syndrome 2-9
 narrow_synonym: LONG QT SYNDROME 2/9, DIGENIC;   LONG QT SYNDROME 9, ACQUIRED, SUSCEPTIBILITY TO;   LQT2/9, DIGENIC
 primary_id: MESH:C567515;   RDO:0015575
 alt_id: OMIM:611818
 xref: GARD:10435
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long QT syndrome 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cav3 caveolin 3 JBrowse link 4 144,382,945 144,398,919 RGD:7240710
RGD:8554872
G Kcnh2 potassium voltage-gated channel subfamily H member 2 JBrowse link 4 7,355,066 7,387,282 RGD:8554872
G Ssuh2 ssu-2 homolog JBrowse link 4 144,301,913 144,322,197 RGD:8554872

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  disease 14926
    syndrome 4715
      long QT syndrome 176
        long QT syndrome 9 3
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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 9 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.