Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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 11
go back to main search page
Accession:DOID:0110082 term browser browse the term
Definition:An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the desmocollin-2 gene (DSC2) on chromosome 18q. (DO)
Synonyms:exact_synonym: ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY, TYPE 11;   ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, AND MILD PALMOPLANTAR KERATODERMA WITH OR WITHOUT WOOLLY HAIR;   ARVC11;   ARVD11;   familial arrhythmogenic right ventricular dysplasia 11;   familial arrhythmogenic right ventricular dysplasia 11, with mild palmoplantar keratoderma and woolly hair;   familial arrhythmogenic right ventricular dysplasia 11, with or without mild palmoplantar keratoderma
 narrow_synonym: ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 11
 primary_id: MESH:C566471
 alt_id: OMIM:610476
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
arrhythmogenic right ventricular dysplasia 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by OMIM:610476
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair
ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11
ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH OR WITHOUT MILD PALMOPLANTAR KERATODERMA
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 11
OMIM
ClinVar
PMID:7971964 PMID:17033975 PMID:17186466 PMID:17363426 PMID:17963498 PMID:18382419 PMID:18678517 PMID:18957847 PMID:20031616 PMID:20031617 PMID:20152563 PMID:20197793 PMID:20400443 PMID:20646679 PMID:20716751 PMID:20829228 PMID:20857253 PMID:20864495 PMID:21062920 PMID:21220045 PMID:21606390 PMID:21606396 PMID:21636032 PMID:21822014 PMID:21859740 PMID:22722193 PMID:23147450 PMID:23292937 PMID:23299917 PMID:23396983 PMID:23414727 PMID:23514727 PMID:23757202 PMID:23812740 PMID:23826350 PMID:23861362 PMID:23863954 PMID:23911551 PMID:24033266 PMID:24055113 PMID:24070718 PMID:24503780 PMID:24704780 PMID:24967631 PMID:25163546 PMID:25351510 PMID:25390934 PMID:25447171 PMID:25516398 PMID:25569433 PMID:25637381 PMID:25741868 PMID:25819062 PMID:25820315 PMID:26138720 PMID:26498160 PMID:26656175 PMID:26780541 PMID:27000522 PMID:27153395 PMID:27532257 PMID:27884173 PMID:27930701 PMID:28153106 PMID:28255936 PMID:28416588 PMID:28471438 PMID:28492532 PMID:28600387 PMID:28798025 PMID:29032884 PMID:29178656 PMID:29367541 PMID:29641836 PMID:29802319 PMID:31333075 PMID:31568572 NCBI chr18:11,826,705...11,858,801
Ensembl chr18:11,826,706...11,858,754
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      congenital heart disease 1057
        arrhythmogenic right ventricular cardiomyopathy 96
          arrhythmogenic right ventricular dysplasia 11 1
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        Congenital Abnormalities 4721
          Cardiovascular Abnormalities 1109
            congenital heart disease 1057
              arrhythmogenic right ventricular cardiomyopathy 96
                arrhythmogenic right ventricular dysplasia 11 1
paths to the root