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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
 related_synonym: LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO
 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 Scn5a sodium voltage-gated channel alpha subunit 5 JBrowse link 8 128,169,191 128,266,681 RGD:7240710
RGD:8554872
RGD:11554173
RGD:13831293

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Term Annotations click to browse term
  disease 15590
    syndrome 5131
      long QT syndrome 213
        long QT syndrome 3 1
Path 2
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  disease 15590
    Developmental Diseases 8723
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7503
        genetic disease 6993
          monogenic disease 4551
            autosomal genetic disease 3501
              autosomal dominant disease 2065
                long QT syndrome 3 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.