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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 ClinVar Annotator: match by term: Brugada syndrome 4 | ClinVar Annotator: match by term: CACNB2-related condition OMIM
ClinVar		 PMID:9536098 PMID:17224476 PMID:17576681 PMID:19358333 PMID:20817017 More... NCBI chrNW_004955429:9,642,725...9,966,175
Ensembl chrNW_004955429:9,644,053...9,966,175 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    syndrome 9327
      Brugada syndrome 115
        Brugada syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 16063
    Developmental Disease 15996
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 15949
        genetic disease 15939
          monogenic disease 9437
            Brugada syndrome 115
              Brugada syndrome 4 1
paths to the root