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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:Bundle-Branch Block
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Accession:DOID:9003912 term browser browse the term
Definition:A form of heart block in which the electrical stimulation of HEART VENTRICLES is interrupted at either one of the branches of BUNDLE OF HIS thus preventing the simultaneous depolarization of the two ventricles.
Synonyms:exact_synonym: Anterior Fascicular Block;   Fascicular Block;   Fascicular Blocks;   Left Bundle Branch Block;   Left Bundle-Branch Blocks;   anterior fascicular blocks;   bundle branch blocks;   posterior fascicular block;   posterior fascicular blocks
 primary_id: MESH:D002037
 xref: EFO:0004138


show annotations for term's descendants           Sort by:
progressive familial heart block type IA 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: Hereditary bundle branch system defect ClinVar PMID:619595 PMID:20562447 PMID:21887725 PMID:23382873 PMID:26350513 More... NCBI chr 1:95,813,262...95,816,987
Ensembl chr 1:95,813,253...95,816,984 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar Annotator: match by term: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA
OMIM:113900		 CTD
OMIM
ClinVar
MouseDO		 PMID:235469 PMID:291807 PMID:461398 PMID:1309946 PMID:2107088 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769 		JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar Annotator: match by term: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA ClinVar PMID:619595 PMID:20562447 PMID:21887725 PMID:23382873 PMID:26350513 More... NCBI chr 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532 		JBrowse link
Trifascicular Block term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lamp2 lysosomal-associated membrane protein 2 ISO ClinVar Annotator: match by term: Trifascicular block on electrocardiogram ClinVar PMID:28492532 NCBI chr  X:117,173,097...117,222,090
Ensembl chr  X:117,057,606...117,260,522 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    Pathological Conditions, Signs and Symptoms 13376
      Pathologic Processes 7988
        Cardiac Arrhythmias 725
          Heart Block 64
            Bundle-Branch Block 4
              Trifascicular Block 1
              left bundle branch hemiblock 0
              progressive familial heart block type IA 3
              right bundle branch block + 0
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      cardiovascular system disease 5412
        heart disease 3307
          Cardiac Arrhythmias 725
            Heart Block 64
              Bundle-Branch Block 4
                Trifascicular Block 1
                left bundle branch hemiblock 0
                progressive familial heart block type IA 3
                right bundle branch block + 0
paths to the root