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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:Brugada syndrome 4
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Accession:DOID:0110221 term browser browse the term
Definition:A Brugada syndrome that has_material_basis_in heterozygous mutation in the gene encoding the beta-2 subunit of the voltage-dependent L-type calcium channel (CACNB2) on chromosome 10p12. (DO)
Synonyms:exact_synonym: BRGDA4;   CACNB2-RELATED CONDITION
 primary_id: MESH:C567508
 alt_id: OMIM:611876
 xref: GARD:10362


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Brugada syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brugada syndrome 4 | ClinVar Annotator: match by term: CACNB2-related condition		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:17224476 PMID:17576681 PMID:19358333 PMID:20817017 More... NCBI chr17:77,564,630...77,910,000
Ensembl chr17:77,564,460...77,909,106 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10832
      Brugada syndrome 125
        Brugada syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        genetic disease 18252
          monogenic disease 10362
            Brugada syndrome 125
              Brugada syndrome 4 1
paths to the root