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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
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Accession:DOID:0111073 term browser browse the term
Definition:A heart conduction disease characterized by autosomal dominant inheritance of a cardiac conduction defect that may progress to complete atrioventricular (AV) block and maybe asymptomatic of manifest as shortness of breath, dizziness, syncope, abdominal pain, heart failure or sudden death. (DO)
Synonyms:exact_synonym: Lenegre Lev disease;   PFHB;   familial Lenegre disease;   familial Lev disease;   familial Lev-Lenegre disease;   familial PCCD;   hereditary bundle branch defect;   hereditary bundle branch system defect;   progressive cardiac conduction defect
 primary_id: MESH:C566873
 xref: OMIM:PS113900;   ORDO:871
For additional species annotation, visit the Alliance of Genome Resources.



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 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 Annotator: match by term: Progressive familial heart block
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
ClinVar Annotator: match by term: Hereditary bundle branch system defect
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: LENEGRE-LEV DISEASE
ClinVar Annotator: match by term: Progressive familial heart block
ClinVar Annotator: match by term: Hereditary bundle branch system defect
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
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 I 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: HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I
ClinVar Annotator: match by term: Heart block progressive familial type 1
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: HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I 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
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
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 term: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB
ClinVar Annotator: match by OMIM:604559
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 17435
    physical disorder 3130
      congenital heart block 4
        progressive familial heart block 4
          Progressive Familial Heart Block Type I + 3
          progressive familial heart block type II 0
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      cardiovascular system disease 4539
        heart disease 2705
          Cardiac Arrhythmias 595
            Heart Block 41
              atrioventricular block 10
                congenital heart block 4
                  progressive familial heart block 4
                    Progressive Familial Heart Block Type I + 3
                    progressive familial heart block type II 0
paths to the root