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ONTOLOGY REPORT - ANNOTATIONS


Term:long QT syndrome 12
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Accession:DOID:0110653 term browser browse the term
Definition:A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SNTA1 gene on chromosome 20q11.21. (DO)
Synonyms:exact_synonym: LQT12
 primary_id: MESH:C567842
 alt_id: OMIM:612955;   RDO:0015756
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long QT syndrome 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Snta1 syntrophin, alpha 1 JBrowse link 3 149,874,023 149,905,980 RGD:8554872
RGD:7240710

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  disease 15984
    syndrome 6094
      long QT syndrome 247
        long QT syndrome 12 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 12 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.