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ONTOLOGY REPORT - ANNOTATIONS


Term:progressive familial heart block type IB
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Accession:DOID:0111076 term browser browse the term
Definition:A progressive familial heart block characterized by that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: PFHB1B;   PFHBIB
 primary_id: MESH:C567037;   RDO:0015222
 alt_id: OMIM:604559
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progressive familial heart block type IB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 JBrowse link 1 101,293,300 101,323,484 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          progressive familial heart block type IB 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      cardiovascular system disease 4053
        heart disease 2225
          Cardiac Arrhythmias 488
            Heart Block 25
              atrioventricular block 9
                congenital heart block 4
                  progressive familial heart block 4
                    Progressive Familial Heart Block Type I 2
                      progressive familial heart block type IB 1
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