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ONTOLOGY REPORT - ANNOTATIONS


Term:progressive familial heart block type IA
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Accession:DOID:0111074 term browser browse the term
Definition:A progressive familial heart block characterized by autosomal dominant inheritance of cardiac bundle branch disorder that may progress to complete heart block that has_material_basis_in mutation in the SCN5A gene on chromosome 3p21. (DO)
Synonyms:exact_synonym: PCCD;   PFHB1A;   PFHBIA;   bundle branch block
 narrow_synonym: CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE;   HBBD HEART BLOCK, NONPROGRESSIVE;   hereditary bundle branch system defect
 primary_id: OMIM:113900
 alt_id: RDO:0007898
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progressive familial heart block type IA 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 Scn5a sodium voltage-gated channel alpha subunit 5 JBrowse link 8 128,169,191 128,266,681 RGD:7240710
RGD:8554872
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 JBrowse link 1 101,293,300 101,323,484 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15992
    Developmental Diseases 9280
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8094
        genetic disease 7612
          monogenic disease 5382
            autosomal genetic disease 4347
              autosomal dominant disease 2713
                progressive familial heart block type IA 3
Path 2
Term Annotations click to browse term
  disease 15992
    disease of anatomical entity 15263
      cardiovascular system disease 4357
        heart disease 2586
          Cardiac Arrhythmias 586
            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 IA 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.