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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 5
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Accession:DOID:0110074 term browser browse the term
Definition:An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the TMEM43 gene on chromosome 3p25. (DO)
Synonyms:exact_synonym: ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY, TYPE 5;   ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, TYPE 5;   ARVC5;   ARVD5;   Arrhythmogenic Right Ventricular Cardiomyopathy 5;   familial arrhythmogenic right ventricular dysplasia 5
 primary_id: MESH:C565776
 alt_id: OMIM:604400;   RDO:0014323
 xref: NCI:C173470
For additional species annotation, visit the Alliance of Genome Resources.


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arrhythmogenic right ventricular dysplasia 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpsa ribosomal protein SA ISS OMIM:604400 MouseDO NCBI chr 8:128,806,053...128,809,987
Ensembl chr 8:128,806,129...128,809,986
JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 5
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, type 5
OMIM
ClinVar
PMID:18313022 PMID:18414213 PMID:20010364 PMID:20435227 PMID:21214875 PMID:21391237 PMID:21636032 PMID:22458570 PMID:22725725 PMID:23161701 PMID:23178689 PMID:23555315 PMID:23671136 PMID:23810883 PMID:23812740 PMID:23861362 PMID:24033266 PMID:24125834 PMID:24598986 PMID:25214167 PMID:25343256 PMID:25351510 PMID:25676813 PMID:25741868 PMID:25820315 PMID:26467025 PMID:26513349 PMID:26743238 PMID:26840987 PMID:27153395 PMID:27532257 PMID:28301460 PMID:28471438 PMID:28491673 PMID:28492532 PMID:28750076 PMID:29040414 PMID:29247119 PMID:29980933 PMID:30206291 PMID:30700137 PMID:31333075 PMID:31568572 NCBI chr 4:123,118,468...123,133,610
Ensembl chr 4:123,118,468...123,133,609
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      congenital heart disease 1062
        arrhythmogenic right ventricular cardiomyopathy 96
          arrhythmogenic right ventricular dysplasia 5 2
Path 2
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          monogenic disease 5725
            autosomal genetic disease 4875
              autosomal dominant disease 3160
                arrhythmogenic right ventricular dysplasia 5 2
paths to the root