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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:congenital heart block
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Accession:DOID:990 term browser browse the term
Definition:An atrioventricular block characterized by the presence of conduction system disease of any form, which is diagnosed on or before 28 days of life. (DO)
Synonyms:exact_synonym: Congenital complete heart block;   Familial congenital heart block;   Isolated Congenital Heart Block
 primary_id: MESH:C535758
 alt_id: MIM:234700
 xref: GARD:6164;   ICD10CM:Q24.6;   ICD9CM:746.86


show annotations for term's descendants           Sort by:
progressive familial heart block term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casq2 calsequestrin 2 ISO ClinVar Annotator: match by term: Progressive familial heart block ClinVar PMID:23861362 PMID:25741868 PMID:28404607 PMID:28492532 PMID:30615648 NCBI chr 2:189,526,003...189,582,276
Ensembl chr 2:189,525,960...189,582,267 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Progressive familial heart block ClinVar PMID:25741868 NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
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 ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar Annotator: match by term: Progressive familial heart block ClinVar 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 ClinVar PMID:619595 PMID:20562447 PMID:21887725 PMID:23382873 PMID:25741868 More... NCBI chr 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532 		JBrowse link
Progressive Familial Heart Block Type I 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: Heart block progressive familial type 1 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 ClinVar Annotator: match by term: HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I | ClinVar Annotator: match by term: Heart block progressive familial type 1 ClinVar 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: Heart block progressive familial type 1 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
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 ISS
ISO		 OMIM:113900
ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar Annotator: match by term: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA		 MouseDO
ClinVar
OMIM		 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
progressive familial heart block type IB term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gys1 glycogen synthase 1 ISO ClinVar Annotator: match by term: Progressive familial heart block type IB ClinVar PMID:28492532 NCBI chr 1:95,915,443...95,935,292
Ensembl chr 1:95,915,443...95,935,292 		JBrowse link
G Hrc histidine rich calcium binding protein ISO ClinVar Annotator: match by term: Progressive familial heart block type 1B | ClinVar Annotator: match by term: Progressive familial heart block type IB 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 Kcna7 potassium voltage-gated channel subfamily A member 7 ISO ClinVar Annotator: match by term: Progressive familial heart block type IB ClinVar PMID:28492532 NCBI chr 1:95,886,073...95,891,565
Ensembl chr 1:95,886,073...95,891,565 		JBrowse link
G Lhb luteinizing hormone subunit beta ISO ClinVar Annotator: match by term: Progressive familial heart block type IB ClinVar PMID:28492532 NCBI chr 1:95,898,269...95,901,973
Ensembl chr 1:95,900,984...95,901,972
Ensembl chr 1:95,900,984...95,901,972 		JBrowse link
G Lin7b lin-7 homolog B, crumbs cell polarity complex component ISO ClinVar Annotator: match by term: Progressive familial heart block type IB ClinVar PMID:28492532 NCBI chr 1:95,846,888...95,849,628
Ensembl chr 1:95,846,243...95,849,977 		JBrowse link
G Ntf4 neurotrophin 4 ISO ClinVar Annotator: match by term: Progressive familial heart block type IB ClinVar PMID:28492532 NCBI chr 1:95,893,560...95,896,391
Ensembl chr 1:95,893,457...95,897,243 		JBrowse link
G Ppfia3 PTPRF interacting protein alpha 3 ISO ClinVar Annotator: match by term: Progressive familial heart block type IB ClinVar PMID:28492532 NCBI chr 1:95,817,110...95,845,950
Ensembl chr 1:95,817,110...95,845,798 		JBrowse link
G Ruvbl2 RuvB-like AAA ATPase 2 ISO ClinVar Annotator: match by term: Progressive familial heart block type IB ClinVar PMID:28492532 NCBI chr 1:95,902,014...95,915,247
Ensembl chr 1:95,901,701...95,915,342 		JBrowse link
G Snrnp70 small nuclear ribonucleoprotein U1 subunit 70 ISO ClinVar Annotator: match by term: Progressive familial heart block type IB ClinVar PMID:28492532 NCBI chr 1:95,856,038...95,876,434
Ensembl chr 1:95,856,036...95,876,392 		JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Progressive familial heart block type 1B | ClinVar Annotator: match by term: Progressive familial heart block type IB | ClinVar Annotator: match by term: TRPM4-related disorder
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 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 19102
    physical disorder 5180
      congenital heart block 13
        progressive familial heart block + 13
Path 2
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      respiratory system disease 5240
        thoracic disease 4048
          heart disease 3472
            Cardiac Arrhythmias 775
              Heart Block 65
                atrioventricular block 32
                  congenital heart block 13
                    progressive familial heart block + 13
paths to the root