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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 10
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Accession:DOID:0110081 term browser browse the term
Definition:An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the desmoglein-2 gene (DSG2) on chromosome 18q12. (DO)
Synonyms:exact_synonym: ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY, TYPE 10;   ARVC10;   ARVD10;   Arrhythmogenic Right Ventricular Cardiomyopathy 10;   familial arrhythmogenic right ventricular dysplasia 10
 primary_id: MESH:C565707
 alt_id: OMIM:610193;   RDO:0014269
 xref: NCI:C177248
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
arrhythmogenic right ventricular dysplasia 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by OMIM:610193
ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10
OMIM
ClinVar
PMID:2040044 PMID:9536098 PMID:16025435 PMID:16199547 PMID:16505173 More... NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156
JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 ClinVar PMID:25741868 NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041
JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 ClinVar PMID:28492532 NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      congenital heart disease 1080
        arrhythmogenic right ventricular cardiomyopathy 97
          arrhythmogenic right ventricular dysplasia 10 3
Path 2
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        genetic disease 8960
          monogenic disease 7128
            autosomal genetic disease 6276
              autosomal dominant disease 4460
                arrhythmogenic right ventricular dysplasia 10 3
paths to the root