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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:arrhythmogenic right ventricular dysplasia 13
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Accession:DOID:0110084 term browser browse the term
Definition:An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the CTNNA3 gene on chromosome 10q21. (DO)
Synonyms:exact_synonym: ARVC13;   ARVD13;   arrhythmogenic right ventricular cardiomyopathy 13;   familial arrhythmogenic right ventricular dysplasia 13
 primary_id: OMIM:615616
For additional species annotation, visit the Alliance of Genome Resources.


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arrhythmogenic right ventricular dysplasia 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnna3 catenin alpha 3 ISO ClinVar Annotator: match by OMIM:615616
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 13
OMIM
ClinVar
PMID:22421363 PMID:23136403 PMID:23375656 PMID:25050139 PMID:25741868 PMID:27535533 PMID:28416588 PMID:28492532 NCBI chr20:25,063,124...26,640,428
Ensembl chr20:26,516,836...26,589,209
JBrowse link
G Lrrtm3 leucine rich repeat transmembrane neuronal 3 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 13 ClinVar NCBI chr20:25,990,304...26,163,656
Ensembl chr20:25,990,304...26,163,656
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      congenital heart disease 1074
        arrhythmogenic right ventricular cardiomyopathy 96
          arrhythmogenic right ventricular dysplasia 13 2
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal dominant disease 3058
                arrhythmogenic right ventricular dysplasia 13 2
paths to the root