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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 8
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Accession:DOID:0110076 term browser browse the term
Definition:An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the gene encoding desmoplakin (DSP) on chromosome 6p24. (DO)
Synonyms:exact_synonym: ARVC8;   ARVD8;   arrhythmogenic right ventricular cardiomyopathy 8;   arrhythmogenic right ventricular cardiomyopathy, type 8;   familial arrhythmogenic right ventricular dysplasia 8
 primary_id: MESH:C564400
 alt_id: OMIM:607450


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arrhythmogenic right ventricular dysplasia 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP6 bone morphogenetic protein 6 IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 ClinVar PMID:28492532 NCBI chr 6:7,726,099...7,881,728
Ensembl chr 6:7,726,099...7,881,728 		JBrowse link
G DSP desmoplakin IAGP
ISS
EXP		 ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8
ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8
ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8
OMIM:607450
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:491020 PMID:2450378 PMID:3198322 PMID:8769422 PMID:9229116 More... NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717 		JBrowse link
G DSP-AS1 DSP antisense RNA 1 IAGP ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8
ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8		 ClinVar PMID:9536098 PMID:10395892 PMID:16199547 PMID:16917092 PMID:17576681 More... NCBI chr 6:7,540,451...7,543,083
Ensembl chr 6:7,540,447...7,543,114 		JBrowse link
G LOC110121274 VISTA enhancer hs2191 IAGP ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 ClinVar PMID:28492532 NCBI chr 6:7,560,927...7,562,502 JBrowse link
G SNRNP48 small nuclear ribonucleoprotein U11/U12 subunit 48 IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 ClinVar PMID:28492532 NCBI chr 6:7,590,198...7,611,967
Ensembl chr 6:7,590,198...7,611,967 		JBrowse link
G TUBB3 tubulin beta 3 class III IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8		 ClinVar PMID:25741868 NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35757
    Developmental Disease 28591
      congenital heart disease 1910
        arrhythmogenic right ventricular cardiomyopathy 154
          arrhythmogenic right ventricular dysplasia 8 6
Path 2
Term Annotations click to browse term
  disease 35757
    Developmental Disease 28591
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 24618
        genetic disease 23804
          monogenic disease 18603
            autosomal genetic disease 16866
              autosomal dominant disease 10987
                arrhythmogenic right ventricular dysplasia 8 6
paths to the root