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: Lenegre-Lev disease;   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 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 14926
    Developmental Diseases 7774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7096
        genetic disease 6457
          progressive familial heart block type IA 2
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14092
      cardiovascular system disease 4065
        heart disease 2230
          Cardiac Arrhythmias 490
            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 IA 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.