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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 8
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Accession:DOID:0110225 term browser browse the term
Definition:A Brugada syndrome that has_material_basis_in heterozygous mutation in the HCN4 gene on chromosome 15q24. (DO)
Synonyms:exact_synonym: BRGDA8
 primary_id: MESH:C567732
 alt_id: OMIM:613123;   RDO:0015720
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 0
    syndrome 0
      Brugada syndrome 0
        Brugada syndrome 8 0
Path 2
Term Annotations click to browse term
  disease 0
    Developmental Diseases 0
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0
        genetic disease 0
          monogenic disease 0
            Brugada syndrome 0
              Brugada syndrome 8 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.