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ONTOLOGY REPORT - ANNOTATIONS


Term:long QT syndrome 5
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Accession:DOID:0110647 term browser browse the term
Definition:A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNE1 gene on chromosome 21q22.12. (DO)
Synonyms:exact_synonym: LQT5
 narrow_synonym: LONG QT SYNDROME 5, ACQUIRED, SUSCEPTIBILITY TO
 primary_id: MESH:C566766
 alt_id: OMIM:613695;   RDO:0015023
 xref: GARD:10433;   ICD10CM:I45.8
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long QT syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 JBrowse link 11 32,498,260 32,511,202 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15984
    syndrome 6094
      long QT syndrome 247
        long QT syndrome 5 1
Path 2
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  disease 15984
    Developmental Diseases 9281
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8095
        genetic disease 7613
          monogenic disease 5382
            autosomal genetic disease 4348
              autosomal dominant disease 2713
                long QT syndrome 5 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.