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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 8:119,851,225...119,855,103
Ensembl chr 8:119,851,225...119,855,247
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:9536098 PMID:17576681 PMID:18313022 PMID:18414213 PMID:19467449 More... NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      congenital heart disease 1088
        arrhythmogenic right ventricular cardiomyopathy 98
          arrhythmogenic right ventricular dysplasia 5 2
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal dominant disease 4490
                arrhythmogenic right ventricular dysplasia 5 2
paths to the root