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ONTOLOGY REPORT - ANNOTATIONS


Term:arrhythmogenic right ventricular cardiomyopathy
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Accession:DOID:0050431 term browser browse the term
Definition:A congenital cardiomyopathy that is characterized by infiltration of adipose and fibrous tissue into the RIGHT VENTRICLE wall and loss of myocardial cells. Primary injuries usually are at the free wall of right ventricular and right atria resulting in ventricular and supraventricular arrhythmias.
Synonyms:exact_synonym: ARVC;   ARVD;   ARVD-C;   Arrhythmogenic Right Ventricular Cardiomyopathy Dysplasia;   Arrhythmogenic Right Ventricular Dysplasia;   CARDIOMYOPATHY, ARVC;   Right ventricular cardiomyopathy
 primary_id: MESH:D019571
 alt_id: RDO:0004313
 xref: NCI:C84571;   OMIM:PS107970;   ORDO:217656;   ORDO:247
For additional species annotation, visit the Alliance of Genome Resources.


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arrhythmogenic right ventricular cardiomyopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc9 ATP binding cassette subfamily C member 9 JBrowse link 4 176,806,098 176,928,540 RGD:8554872
G Actn2 actinin alpha 2 JBrowse link 17 66,304,530 66,397,647 RGD:13506947
RGD:8554872
G Ank2 ankyrin 2 JBrowse link 2 231,224,643 231,522,655 RGD:8554872
G Bag3 Bcl2-associated athanogene 3 JBrowse link 1 199,941,258 199,965,191 RGD:8554872
G Calr3 calreticulin 3 JBrowse link 16 19,097,391 19,124,062 RGD:8554872
G Cdh2 cadherin 2 JBrowse link 18 8,146,971 8,366,037 RGD:13524622
RGD:13524623
G Des desmin JBrowse link 9 82,556,574 82,564,288 RGD:13525009
RGD:8554872
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
G Dsc2 desmocollin 2 JBrowse link 18 11,826,705 11,858,801 RGD:8554872
G Dsg2 desmoglein 2 JBrowse link 18 15,579,322 15,637,720 RGD:8554872
G Dsp desmoplakin JBrowse link 17 27,286,811 27,334,453 RGD:1580890
RGD:8554872
G Fhl2 four and a half LIM domains 2 JBrowse link 9 49,920,611 49,994,906 RGD:8554872
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:11352402
RGD:13592599
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 JBrowse link 8 63,599,907 63,637,327 RGD:8554872
G Ift43 intraflagellar transport 43 JBrowse link 6 109,939,323 110,016,646 RGD:8554872
G Il6r interleukin 6 receptor JBrowse link 2 189,196,180 189,255,987 RGD:10402826
G Jup junction plakoglobin JBrowse link 10 88,280,517 88,307,451 RGD:8554872
RGD:11352402
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 JBrowse link 11 32,498,260 32,511,202 RGD:8554872
G Kcnh2 potassium voltage-gated channel subfamily H member 2 JBrowse link 4 7,355,066 7,387,282 RGD:8554872
G Lama4 laminin subunit alpha 4 JBrowse link 20 44,060,715 44,201,966 RGD:8554872
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
RGD:11056513
G Myom1 myomesin 1 JBrowse link 9 119,353,840 119,469,196 RGD:8554872
G Pdlim3 PDZ and LIM domain 3 JBrowse link 16 49,543,140 49,574,362 RGD:13592920
G Pkp2 plakophilin 2 JBrowse link 11 88,912,163 88,972,213 RGD:1580872
RGD:8554872
RGD:1580873
G Ppp1r13l protein phosphatase 1, regulatory subunit 13 like JBrowse link 1 80,271,288 80,290,946 RGD:13592920
G Rbm20 RNA binding motif protein 20 JBrowse link 1 274,391,932 274,589,816 RGD:8554872
G Ryr2 ryanodine receptor 2 JBrowse link 17 65,533,998 65,955,606 RGD:1599243
RGD:8554872
G Scn5a sodium voltage-gated channel alpha subunit 5 JBrowse link 8 128,169,191 128,266,681 RGD:8554872
RGD:11352402
G Snta1 syntrophin, alpha 1 JBrowse link 3 149,874,023 149,905,980 RGD:8554872
G Tgfb3 transforming growth factor, beta 3 JBrowse link 6 109,913,757 109,936,217 RGD:8554872
G Tmem43 transmembrane protein 43 JBrowse link 4 123,118,468 123,133,610 RGD:8554872
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
G Xpc XPC complex subunit, DNA damage recognition and repair factor JBrowse link 4 123,134,457 123,161,985 RGD:8554872
arrhythmogenic right ventricular dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsg2 desmoglein 2 JBrowse link 18 15,579,322 15,637,720 RGD:8554872
G Plec plectin JBrowse link 7 117,230,319 117,291,859 RGD:8554872
G Ryr2 ryanodine receptor 2 JBrowse link 17 65,533,998 65,955,606 RGD:8554872
G Tgfb3 transforming growth factor, beta 3 JBrowse link 6 109,913,757 109,936,217 RGD:7240710
RGD:8554872
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
arrhythmogenic right ventricular dysplasia 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsg2 desmoglein 2 JBrowse link 18 15,579,322 15,637,720 RGD:7240710
RGD:8554872
arrhythmogenic right ventricular dysplasia 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsc2 desmocollin 2 JBrowse link 18 11,826,705 11,858,801 RGD:7240710
RGD:8554872
arrhythmogenic right ventricular dysplasia 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Jup junction plakoglobin JBrowse link 10 88,280,517 88,307,451 RGD:7240710
RGD:8554872
arrhythmogenic right ventricular dysplasia 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctnna3 catenin alpha 3 JBrowse link 20 25,063,124 26,640,428 RGD:7240710
RGD:8554872
arrhythmogenic right ventricular dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ryr2 ryanodine receptor 2 JBrowse link 17 65,533,998 65,955,606 RGD:7240710
RGD:8554872
arrhythmogenic right ventricular dysplasia 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rpsa ribosomal protein SA JBrowse link 8 128,806,053 128,809,987 RGD:13592920
G Tmem43 transmembrane protein 43 JBrowse link 4 123,118,468 123,133,610 RGD:7240710
RGD:8554872
arrhythmogenic right ventricular dysplasia 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsp desmoplakin JBrowse link 17 27,286,811 27,334,453 RGD:7240710
RGD:8554872
arrhythmogenic right ventricular dysplasia 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Des desmin JBrowse link 9 82,556,574 82,564,288 RGD:8554872
G Dnm1l dynamin 1-like JBrowse link 11 88,830,968 88,882,271 RGD:8554872
G Dsc2 desmocollin 2 JBrowse link 18 11,826,705 11,858,801 RGD:8554872
G Fgd4 FYVE, RhoGEF and PH domain containing 4 JBrowse link 11 88,699,222 88,796,677 RGD:8554872
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
G Myh6 myosin heavy chain 6 JBrowse link 15 33,605,653 33,629,730 RGD:8554872
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
G Pkp2 plakophilin 2 JBrowse link 11 88,912,163 88,972,213 RGD:7240710
RGD:8554872
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 JBrowse link 4 6,559,153 6,799,888 RGD:8554872
G Ryr2 ryanodine receptor 2 JBrowse link 17 65,533,998 65,955,606 RGD:8554872
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
G Yars2 tyrosyl-tRNA synthetase 2 JBrowse link 11 88,882,615 88,888,377 RGD:8554872
Carvajal syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsp desmoplakin JBrowse link 17 27,286,811 27,334,453 RGD:7240710
RGD:8554872
RGD:11554173
Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dsp desmoplakin JBrowse link 17 27,286,811 27,334,453 RGD:7240710
RGD:8554872
myofibrillar myopathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb6 ATP binding cassette subfamily B member 6 JBrowse link 9 82,373,950 82,382,228 RGD:8554872
G Ankzf1 ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 JBrowse link 9 82,393,619 82,400,537 RGD:8554872
G Atg9a autophagy related 9A JBrowse link 9 82,382,800 82,393,429 RGD:8554872
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone JBrowse link 9 81,868,158 81,872,201 RGD:8554872
G Catip ciliogenesis associated TTC17 interacting protein JBrowse link 9 81,644,239 81,652,045 RGD:8554872
G Cdk5r2 cyclin-dependent kinase 5 regulatory subunit 2 JBrowse link 9 82,120,059 82,121,527 RGD:8554872
G Cfap65 cilia and flagella associated protein 65 JBrowse link 9 82,163,016 82,197,909 RGD:8554872
G Cnot9 CCR4-NOT transcription complex subunit 9 JBrowse link 9 81,783,349 81,808,815 RGD:8554872
G Cnppd1 cyclin Pas1/PHO80 domain containing 1 JBrowse link 9 82,338,865 82,345,262 RGD:8554872
G Cryba2 crystallin, beta A2 JBrowse link 9 82,151,056 82,154,266 RGD:8554872
G Ctdsp1 CTD small phosphatase 1 JBrowse link 9 81,672,613 81,677,979 RGD:8554872
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 JBrowse link 9 81,968,285 81,998,213 RGD:8554872
G Des desmin JBrowse link 9 82,556,574 82,564,288 RGD:7240710
RGD:8554872
RGD:11554173
RGD:13542086
G Dnajb2 DnaJ heat shock protein family (Hsp40) member B2 JBrowse link 9 82,436,453 82,444,669 RGD:8554872
G Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 JBrowse link 4 2,711,329 2,774,969 RGD:8554872
G Dnpep aspartyl aminopeptidase JBrowse link 9 82,505,529 82,514,399 RGD:8554872
G Fev FEV transcription factor, ETS family member JBrowse link 9 82,142,981 82,146,855 RGD:8554872
G Glb1l galactosidase, beta 1-like JBrowse link 9 82,400,457 82,410,970 RGD:8554872
G Ihh Indian hedgehog signaling molecule JBrowse link 9 82,208,223 82,214,440 RGD:8554872
G Ldb3 LIM domain binding 3 JBrowse link 16 10,878,348 10,943,016 RGD:13592920
G Mir26b microRNA 26b JBrowse link 9 81,675,275 81,675,359 RGD:8554872
G Mir375 microRNA 375 JBrowse link 9 82,161,716 82,161,790 RGD:8554872
G Nhej1 nonhomologous end-joining factor 1 JBrowse link 9 82,230,230 82,327,923 RGD:8554872
G Plcd4 phospholipase C, delta 4 JBrowse link 9 81,816,395 81,844,364 RGD:8554872
G Pnkd PNKD metallo-beta-lactamase domain containing JBrowse link 9 81,566,074 81,634,531 RGD:8554872
G Prkag3 protein kinase AMP-activated non-catalytic subunit gamma 3 JBrowse link 9 81,999,368 82,008,620 RGD:8554872
G Ptprn protein tyrosine phosphatase, receptor type, N JBrowse link 9 82,446,626 82,462,314 RGD:8554872
G Resp18 regulated endocrine-specific protein 18 JBrowse link 9 82,470,794 82,477,136 RGD:8554872
G Retreg2 reticulophagy regulator family member 2 JBrowse link 9 82,345,686 82,351,800 RGD:8554872
G Rnf25 ring finger protein 25 JBrowse link 9 81,873,293 81,880,172 RGD:8554872
G Slc11a1 solute carrier family 11 member 1 JBrowse link 9 81,655,590 81,666,697 RGD:8554872
G Slc23a3 solute carrier family 23, member 3 JBrowse link 9 82,328,007 82,338,576 RGD:8554872
G Stk16 serine/threonine kinase 16 JBrowse link 9 82,411,010 82,414,249 RGD:8554872
G Stk36 serine/threonine kinase 36 JBrowse link 9 81,880,175 81,908,014 RGD:8554872
G Tmbim1 transmembrane BAX inhibitor motif containing 1 JBrowse link 9 81,569,289 81,586,469 RGD:8554872
G Ttll4 tubulin tyrosine ligase like 4 JBrowse link 9 81,925,363 81,961,882 RGD:8554872
G Tuba4a tubulin, alpha 4A JBrowse link 9 82,415,599 82,419,918 RGD:8554872
G Usp37 ubiquitin specific peptidase 37 JBrowse link 9 81,717,626 81,818,421 RGD:8554872
G Vil1 villin 1 JBrowse link 9 81,689,802 81,717,623 RGD:8554872
G Wnt10a Wnt family member 10A JBrowse link 9 82,053,581 82,066,047 RGD:8554872
G Wnt6 Wnt family member 6 JBrowse link 9 82,033,543 82,047,172 RGD:8554872
G Zfand2b zinc finger AN1-type containing 2B JBrowse link 9 82,370,887 82,373,843 RGD:8554872
G Zfp142 zinc finger protein 142 JBrowse link 9 81,844,138 81,868,086 RGD:8554872
Naxos disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Jup junction plakoglobin JBrowse link 10 88,280,517 88,307,451 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    Developmental Diseases 8723
      congenital heart disease 849
        arrhythmogenic right ventricular cardiomyopathy 84
          Naxos disease + 2
          arrhythmogenic right ventricular dysplasia 1 5
          arrhythmogenic right ventricular dysplasia 10 1
          arrhythmogenic right ventricular dysplasia 11 1
          arrhythmogenic right ventricular dysplasia 12 1
          arrhythmogenic right ventricular dysplasia 13 1
          arrhythmogenic right ventricular dysplasia 2 1
          arrhythmogenic right ventricular dysplasia 3 0
          arrhythmogenic right ventricular dysplasia 4 0
          arrhythmogenic right ventricular dysplasia 5 2
          arrhythmogenic right ventricular dysplasia 6 0
          arrhythmogenic right ventricular dysplasia 8 1
          arrhythmogenic right ventricular dysplasia 9 12
          myofibrillar myopathy 1 43
Path 2
Term Annotations click to browse term
  disease 15590
    Developmental Diseases 8723
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7503
        Congenital Abnormalities 3574
          Cardiovascular Abnormalities 901
            congenital heart disease 849
              arrhythmogenic right ventricular cardiomyopathy 84
                Naxos disease + 2
                arrhythmogenic right ventricular dysplasia 1 5
                arrhythmogenic right ventricular dysplasia 10 1
                arrhythmogenic right ventricular dysplasia 11 1
                arrhythmogenic right ventricular dysplasia 12 1
                arrhythmogenic right ventricular dysplasia 13 1
                arrhythmogenic right ventricular dysplasia 2 1
                arrhythmogenic right ventricular dysplasia 3 0
                arrhythmogenic right ventricular dysplasia 4 0
                arrhythmogenic right ventricular dysplasia 5 2
                arrhythmogenic right ventricular dysplasia 6 0
                arrhythmogenic right ventricular dysplasia 8 1
                arrhythmogenic right ventricular dysplasia 9 12
                myofibrillar myopathy 1 43
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.