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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;   progressive familial heart block type 1B
 broad_synonym: TRPM4-RELATED DISORDER
 primary_id: MESH:C567037
 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 Hrc histidine rich calcium binding protein JBrowse link 1 101,324,788 101,328,391 RGD:8554872
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 JBrowse link 1 101,293,300 101,323,484 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  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
                progressive familial heart block type IB 2
Path 2
Term Annotations click to browse term
  disease 15984
    disease of anatomical entity 15262
      cardiovascular system disease 4358
        heart disease 2587
          Cardiac Arrhythmias 585
            Heart Block 29
              atrioventricular block 10
                congenital heart block 4
                  progressive familial heart block 4
                    Progressive Familial Heart Block Type I 3
                      progressive familial heart block type IB 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.