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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
For additional species annotation, visit the Alliance of Genome Resources.


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progressive familial heart block type IB term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hrc histidine rich calcium binding protein ISO ClinVar Annotator: match by term: Progressive familial heart block type 1B ClinVar PMID:619595 PMID:20562447 PMID:21887725 PMID:28492532 PMID:30021168 NCBI chr 1:95,813,262...95,816,987
Ensembl chr 1:95,813,253...95,816,984
JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Progressive familial heart block type IB
ClinVar Annotator: match by term: Progressive familial heart block type 1B
ClinVar Annotator: match by OMIM:604559
ClinVar Annotator: match by term: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB
OMIM
ClinVar
PMID:619595 PMID:897853 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    physical disorder 3086
      congenital heart block 4
        progressive familial heart block 4
          Progressive Familial Heart Block Type I 3
            progressive familial heart block type IB 2
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      cardiovascular system disease 4514
        heart disease 2691
          Cardiac Arrhythmias 592
            Heart Block 40
              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
paths to the root