Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:progressive familial heart block type IB
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14924
    Developmental Diseases 7770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7092
        genetic disease 6457
          progressive familial heart block type IB 1
Path 2
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      cardiovascular system disease 4056
        heart disease 2223
          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 IB 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.