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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 9
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Accession:DOID:0110226 term browser browse the term
Definition:A Brugada syndrome that has_material_basis_in heterozygous mutation in the KCND3 gene on chromosome 1p13. (DO)
Synonyms:exact_synonym: BRGDA9
 primary_id: OMIM:616399
 alt_id: RDO:9001381
For additional species annotation, visit the Alliance of Genome Resources.


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Brugada syndrome 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnd3 potassium voltage-gated channel subfamily D member 3 ISO ClinVar Annotator: match by term: Brugada syndrome 9 OMIM
ClinVar
PMID:21349352 PMID:21640846 PMID:22284586 PMID:22336521 PMID:22457051 PMID:22840528 PMID:23400760 PMID:23414114 PMID:23963749 PMID:24762397 PMID:25214526 PMID:25741868 PMID:26016905 PMID:26467025 PMID:28492532 PMID:29053796 PMID:30776697 NCBI chr 2:207,923,775...208,140,727
Ensembl chr 2:207,923,775...208,140,727
JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Brugada syndrome 9 ClinVar PMID:25741868 PMID:28492532 NCBI chr20:44,060,715...44,201,966
Ensembl chr20:44,060,731...44,209,614
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      Brugada syndrome 67
        Brugada syndrome 9 2
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal dominant disease 3034
                Brugada syndrome 9 2
paths to the root