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arrhythmogenic right ventricular dysplasia 12 - Ontology Report - Rat Genome Database

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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 12
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Accession:DOID:0110083 term browser browse the term
Definition:An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the gene encoding junction plakoglobin (JUP) on chromosome 17q21. (DO)
Synonyms:exact_synonym: ARVC12;   ARVD12;   arrhythmogenic right ventricular cardiomyopathy 12;   familial arrhythmogenic right ventricular dysplasia 12
 primary_id: MESH:C566925
 alt_id: MIM:611528

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arrhythmogenic right ventricular dysplasia 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Jup junction plakoglobin ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 12 OMIM
ClinVar		 PMID:9536098 PMID:10902626 PMID:16199547 PMID:16467215 PMID:16722579 More... NCBI chrNW_004624795:1,954,733...1,972,080
Ensembl chrNW_004624795:1,954,290...1,975,018 		JBrowse link
G G JUP junction plakoglobin ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 12 OMIM
ClinVar		 PMID:9536098 PMID:10902626 PMID:16199547 PMID:16467215 PMID:16722579 More... NCBI chr16:64,470,974...64,503,085
Ensembl chr16:64,470,959...64,503,322 		JBrowse link
G P JUP junction plakoglobin ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 12 OMIM
ClinVar		 PMID:9536098 PMID:10902626 PMID:16199547 PMID:16467215 PMID:16722579 More... NCBI chr12:20,902,395...20,931,208
Ensembl chr12:20,901,396...20,931,210 		JBrowse link
G S Jup junction plakoglobin ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 12 OMIM
ClinVar		 PMID:9536098 PMID:10902626 PMID:16199547 PMID:16467215 PMID:16722579 More... NCBI chrNW_004936490:16,671,176...16,694,552
Ensembl chrNW_004936490:16,668,575...16,694,615 		JBrowse link
G D JUP junction plakoglobin ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 12 OMIM
ClinVar		 PMID:9536098 PMID:10902626 PMID:16199547 PMID:16467215 PMID:16722579 More... NCBI chr 9:21,028,773...21,053,071
Ensembl chr 9:21,028,828...21,053,071 		JBrowse link
G B JUP junction plakoglobin ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 12 OMIM
ClinVar		 PMID:9536098 PMID:10902626 PMID:16199547 PMID:16467215 PMID:16722579 More... NCBI chr17:15,527,115...15,559,251
Ensembl chr17:15,747,163...15,777,479 		JBrowse link
G C Jup junction plakoglobin ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 12 OMIM
ClinVar		 PMID:9536098 PMID:10902626 PMID:16199547 PMID:16467215 PMID:16722579 More... NCBI chrNW_004955451:15,993,055...16,004,152
Ensembl chrNW_004955451:15,989,180...16,004,155 		JBrowse link
G R Jup junction plakoglobin ISO
ISS		 ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 12
OMIM:611528
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:10902626 PMID:16199547 PMID:16467215 PMID:16722579 More... NCBI chr10:85,800,812...85,827,881
Ensembl chr10:85,300,440...85,327,057 		JBrowse link
G M Jup junction plakoglobin ISO
IAGP		 ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 12
CTD Direct Evidence: marker/mechanism
OMIM:611528		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:10902626 PMID:16199547 PMID:16467215 PMID:16722579 More... NCBI chr11:100,259,682...100,288,639
Ensembl chr11:100,259,784...100,288,589 		JBrowse link
G H JUP junction plakoglobin IAGP
ISS
EXP		 ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 12
OMIM:611528
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:10902626 PMID:16199547 PMID:16467215 PMID:16722579 More... NCBI chr17:41,754,609...41,786,711
Ensembl chr17:41,754,604...41,786,931 		JBrowse link
G H LOC130060847 ATAC-STARR-seq lymphoblastoid silent region 8499 IAGP ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 12 ClinVar PMID:25741868 NCBI chr17:41,786,380...41,786,679 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    Developmental Disease 170851
      congenital heart disease 14506
        arrhythmogenic right ventricular cardiomyopathy 1237
          arrhythmogenic right ventricular dysplasia 12 11
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      respiratory system disease 65925
        thoracic disease 47582
          heart disease 40850
            cardiomyopathy 14211
              intrinsic cardiomyopathy 10417
                arrhythmogenic right ventricular cardiomyopathy 1237
                  arrhythmogenic right ventricular dysplasia 12 11
paths to the root