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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 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
 xref: NCI:C126651
For additional species annotation, visit the Alliance of Genome Resources.


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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: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA 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 Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA
ClinVar Annotator: match by term: Hereditary bundle branch system defect
ClinVar Annotator: match by OMIM:113900
OMIM
ClinVar
PMID:2107088 PMID:8661019 PMID:9536098 PMID:10471492 PMID:10508990 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: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA ClinVar PMID:619595 PMID:20562447 PMID:21887725 PMID:28492532 PMID:30021168 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 17205
    physical disorder 3086
      congenital heart block 4
        progressive familial heart block 4
          Progressive Familial Heart Block Type I 3
            progressive familial heart block type IA 3
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      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 IA 3
paths to the root