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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
 narrow_synonym: CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE;   HBBD HEART BLOCK, NONPROGRESSIVE;   hereditary bundle branch system defect
 primary_id: OMIM:113900
 xref: NCI:C126651

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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 chrNW_004955559:1,583,661...1,587,457
Ensembl chrNW_004955559:1,583,876...1,587,355 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar Annotator: match by term: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA ClinVar
OMIM		 PMID:235469 PMID:291807 PMID:461398 PMID:1309946 PMID:2107088 More... NCBI chrNW_004955427:25,295,517...25,371,419
Ensembl chrNW_004955427:25,295,514...25,371,552 		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 chrNW_004955559:1,539,036...1,581,800
Ensembl chrNW_004955559:1,546,365...1,581,712 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    physical disorder 4597
      congenital heart block 13
        progressive familial heart block 13
          Progressive Familial Heart Block Type I 11
            progressive familial heart block type IA 3
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      cardiovascular system disease 4073
        heart disease 2851
          Cardiac Arrhythmias 684
            Heart Block 62
              atrioventricular block 29
                congenital heart block 13
                  progressive familial heart block 13
                    Progressive Familial Heart Block Type I 11
                      progressive familial heart block type IA 3
paths to the root