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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 9
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Accession:DOID:0110077 term browser browse the term
Definition:An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutations in the PKP2 gene on chromosome 12p11. (DO)
Synonyms:exact_synonym: ARVC9;   ARVD9;   arrhythmogenic right ventricular cardiomyopathy 9;   arrhythmogenic right ventricular cardiomyopathy, type 9;   familial arrhythmogenic right ventricular dysplasia 9
 primary_id: MESH:C563808
 alt_id: OMIM:609040
 xref: NCI:C173471
For additional species annotation, visit the Alliance of Genome Resources.


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arrhythmogenic right ventricular dysplasia 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Des desmin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:25741868 NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294
JBrowse link
G Dnm1l dynamin 1-like ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:27066507 PMID:28492532 NCBI chr11:88,830,968...88,882,271
Ensembl chr11:88,830,957...88,880,198
JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 ClinVar NCBI chr18:11,826,705...11,858,801
Ensembl chr18:11,826,706...11,858,754
JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:25741868 PMID:25820315 PMID:28492532 NCBI chr17:27,286,811...27,334,453
Ensembl chr17:27,286,796...27,334,379
JBrowse link
G Fgd4 FYVE, RhoGEF and PH domain containing 4 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:27066507 PMID:28492532 NCBI chr11:88,699,222...88,796,677
Ensembl chr11:88,699,222...88,796,677
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 ClinVar PMID:25741868 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:28492532 NCBI chr15:33,605,653...33,629,730
Ensembl chr15:33,605,654...33,629,699
JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 ClinVar NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9
ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9
ClinVar Annotator: match by OMIM:609040
OMIM
ClinVar
PMID:2163603 PMID:2412583 PMID:15489853 PMID:16101641 PMID:16415378 PMID:16549640 PMID:16567567 PMID:16774985 PMID:16893920 PMID:17010805 PMID:17041889 PMID:17372169 PMID:17521752 PMID:17556197 PMID:18382419 PMID:18554203 PMID:18662195 PMID:19084810 PMID:19095136 PMID:19279339 PMID:19302745 PMID:19358943 PMID:19427443 PMID:19533476 PMID:19569224 PMID:19863551 PMID:19880068 PMID:19955750 PMID:20031616 PMID:20031617 PMID:20129281 PMID:20152563 PMID:20197793 PMID:20400443 PMID:20525856 PMID:20573160 PMID:20646679 PMID:20716751 PMID:20829228 PMID:20857253 PMID:20864495 PMID:20890277 PMID:21062920 PMID:21301620 PMID:21378009 PMID:21397041 PMID:21606390 PMID:21606396 PMID:21636032 PMID:21822014 PMID:21859740 PMID:22019812 PMID:22035158 PMID:22036071 PMID:22170284 PMID:22177269 PMID:22214898 PMID:22781308 PMID:22889254 PMID:23137101 PMID:23178689 PMID:23270881 PMID:23299917 PMID:23347029 PMID:23354045 PMID:23396983 PMID:23486541 PMID:23514727 PMID:23671136 PMID:23810883 PMID:23810894 PMID:23812740 PMID:23861362 PMID:23863954 PMID:23871674 PMID:23871885 PMID:23889974 PMID:23911551 PMID:23962865 PMID:23973953 PMID:24033266 PMID:24055113 PMID:24070718 PMID:24125834 PMID:24200904 PMID:24200905 PMID:24352520 PMID:24503780 PMID:24558114 PMID:24585727 PMID:24632794 PMID:24704780 PMID:24784157 PMID:24832006 PMID:24967631 PMID:24981977 PMID:25087486 PMID:25157032 PMID:25163546 PMID:25196244 PMID:25326635 PMID:25332820 PMID:25351510 PMID:25395996 PMID:25445213 PMID:25447171 PMID:25525159 PMID:25616645 PMID:25637381 PMID:25650408 PMID:25676813 PMID:25741868 PMID:25741869 PMID:25765472 PMID:25820315 PMID:25825243 PMID:25857910 PMID:25979592 PMID:25998140 PMID:26220970 PMID:26230511 PMID:26264440 PMID:26332594 PMID:26406308 PMID:26498160 PMID:26656175 PMID:26676851 PMID:26701096 PMID:26743238 PMID:26850880 PMID:26887364 PMID:27000522 PMID:27005929 PMID:27030002 PMID:27066507 PMID:27085656 PMID:27114410 PMID:27122407 PMID:27153395 PMID:27335691 PMID:27532257 PMID:27711072 PMID:27727376 PMID:27930701 PMID:28069705 PMID:28074886 PMID:28166282 PMID:28166811 PMID:28177452 PMID:28253841 PMID:28255936 PMID:28301460 PMID:28341588 PMID:28359509 PMID:28416588 PMID:28431057 PMID:28471438 PMID:28492532 PMID:28518168 PMID:28588093 PMID:28600387 PMID:28611399 PMID:28705875 PMID:28750076 PMID:28807990 PMID:29038103 PMID:29099038 PMID:29128982 PMID:29178656 PMID:29221435 PMID:29247119 PMID:29288195 PMID:29497013 PMID:29511324 PMID:29540472 PMID:29582136 PMID:29802319 PMID:29940860 PMID:29997227 PMID:30161220 PMID:30279520 PMID:30354609 PMID:30445427 PMID:30562116 PMID:30615648 PMID:30656044 PMID:30662450 PMID:30677492 PMID:30764827 PMID:30765282 PMID:30790397 PMID:30821013 PMID:31333075 PMID:31539150 PMID:31568572 PMID:31702781 NCBI chr11:88,912,163...88,972,213 JBrowse link
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 ClinVar PMID:14519435 PMID:24033266 PMID:24503780 PMID:25741868 PMID:27532257 PMID:28492532 NCBI chr 4:6,559,153...6,799,888
Ensembl chr 4:6,559,545...6,799,632
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:25741868 NCBI chr17:65,533,998...65,955,606
Ensembl chr17:65,535,403...65,955,606
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9
ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9
ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9
ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26567375 PMID:28492532 NCBI chr 3:63,565,160...63,837,815 JBrowse link
G Yars2 tyrosyl-tRNA synthetase 2 ISO ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 ClinVar PMID:27066507 PMID:28492532 NCBI chr11:88,882,615...88,888,377
Ensembl chr11:88,882,616...88,888,377
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 9 13
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 9 13
paths to the root