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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

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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 ISO OMIM:604400 MouseDO NCBI chrNW_004936473:28,624,110...28,628,488 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 5 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18230648 PMID:18313022 More... NCBI chrNW_004936602:104,424...113,692
Ensembl chrNW_004936602:104,033...113,738 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      congenital heart disease 1284
        arrhythmogenic right ventricular cardiomyopathy 114
          arrhythmogenic right ventricular dysplasia 5 2
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        genetic disease 16311
          monogenic disease 9607
            autosomal genetic disease 8891
              autosomal dominant disease 5828
                arrhythmogenic right ventricular dysplasia 5 2
paths to the root