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ONTOLOGY REPORT - ANNOTATIONS


Term:familial hypertrophic cardiomyopathy
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Accession:DOID:0080326 term browser browse the term
Definition:An autosomal dominant inherited form of HYPERTROPHIC CARDIOMYOPATHY. It results from any of more than 50 mutations involving genes encoding contractile proteins such as VENTRICULAR MYOSINS; cardiac TROPONIN T; ALPHA-TROPOMYOSIN.
Synonyms:exact_synonym: Familial Ventricular Hypertrophy;   familial asymmetric septal hypertrophy;   familial hypertrophic cardiomyopathies;   familial ventricular hypertrophies;   hereditary ventricular hypertrophies;   hereditary ventricular hypertrophy;   obstructive asymmetric septal hypertrophy;   primary familial hypertrophic cardiomyopathy
 narrow_synonym: CARDIOMYOPATHY, HYPERTROPHIC, MITOCHONDRIAL;   CARDIOMYOPATHY, IDIOPATHIC DILATED, MITOCHONDRIAL
 primary_id: MESH:D024741
 alt_id: DOID:9007615;   RDO:0003773
 xref: ORDO:217569
For additional species annotation, visit the Alliance of Genome Resources.


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familial hypertrophic 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 Acadvl acyl-CoA dehydrogenase, very long chain JBrowse link 10 56,619,321 56,624,468 RGD:8554872
G Actc1 actin, alpha, cardiac muscle 1 JBrowse link 3 105,507,403 105,512,939 RGD:8554872
G Actn2 actinin alpha 2 JBrowse link 17 66,304,530 66,397,647 RGD:8554872
G Alpk3 alpha-kinase 3 JBrowse link 1 142,882,997 142,931,940 RGD:8554872
G Ankrd1 ankyrin repeat domain 1 JBrowse link 1 254,726,985 254,745,673 RGD:8554872
G Bag3 Bcl2-associated athanogene 3 JBrowse link 1 199,941,258 199,965,191 RGD:8554872
G Calm3 calmodulin 3 JBrowse link 1 78,844,520 78,851,628 RGD:13792494
G Calr3 calreticulin 3 JBrowse link 16 19,097,391 19,124,062 RGD:8554872
G Cav3 caveolin 3 JBrowse link 4 144,382,945 144,398,919 RGD:8554872
G Cep85l centrosomal protein 85-like JBrowse link 20 34,574,043 34,743,142 RGD:8554872
G Comt catechol-O-methyltransferase JBrowse link 11 86,715,981 86,735,630 RGD:8554872
G Cryab crystallin, alpha B JBrowse link 8 55,178,543 55,182,546 RGD:8554872
G Csrp3 cysteine and glycine rich protein 3 JBrowse link 1 104,147,205 104,166,389 RGD:8554872
G Ctf1 cardiotrophin 1 JBrowse link 1 199,162,319 199,168,296 RGD:8554872
G Ctnna3 catenin alpha 3 JBrowse link 20 25,063,124 26,640,428 RGD:8554872
G Des desmin JBrowse link 9 82,556,574 82,564,288 RGD:8554872
G Dlg4 discs large MAGUK scaffold protein 4 JBrowse link 10 56,625,845 56,655,543 RGD:8554872
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
G Dnaaf3 dynein, axonemal, assembly factor 3 JBrowse link 1 72,874,131 72,882,867 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:8554872
G Dtna dystrobrevin, alpha JBrowse link 18 14,544,725 14,671,514 RGD:8554872
G Emd emerin JBrowse link X 156,452,847 156,455,858 RGD:8554872
G Eya4 EYA transcriptional coactivator and phosphatase 4 JBrowse link 1 23,237,617 23,611,580 RGD:8554872
G Fhl1 four and a half LIM domains 1 JBrowse link X 159,112,516 159,172,528 RGD:8554872
G Fhl2 four and a half LIM domains 2 JBrowse link 9 49,920,611 49,994,906 RGD:8554872
G Gla galactosidase, alpha JBrowse link X 105,405,915 105,417,331 RGD:8554872
G Gpd1l glycerol-3-phosphate dehydrogenase 1-like JBrowse link 8 122,957,570 122,987,236 RGD:8554872
G Ilk integrin-linked kinase JBrowse link 1 170,578,941 170,585,192 RGD:8554872
G Jph2 junctophilin 2 JBrowse link 3 159,709,998 159,776,536 RGD:8554872
G Jup junction plakoglobin JBrowse link 10 88,280,517 88,307,451 RGD:8554872
G Kcne2 potassium voltage-gated channel subfamily E regulatory subunit 2 JBrowse link 11 32,434,786 32,447,264 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 Lamp2 lysosomal-associated membrane protein 2 JBrowse link X 124,722,628 124,766,079 RGD:8554872
G Ldb3 LIM domain binding 3 JBrowse link 16 10,878,348 10,943,016 RGD:8554872
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
G Mib1 mindbomb E3 ubiquitin protein ligase 1 JBrowse link 18 1,970,914 2,094,920 RGD:8554872
G Mybpc3 myosin binding protein C, cardiac JBrowse link 3 79,940,509 79,958,731 RGD:1580239
RGD:8554872
RGD:11554173
RGD:1580238
RGD:1580234
RGD:1580237
G Myh6 myosin heavy chain 6 JBrowse link 15 33,605,653 33,629,730 RGD:8554872
RGD:11065341
RGD:11554173
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
RGD:11554173
G Myl2 myosin light chain 2 JBrowse link 12 39,951,863 39,959,065 RGD:8554872
RGD:11554173
RGD:1580241
RGD:1580240
G Myl3 myosin light chain 3 JBrowse link 8 119,030,852 119,036,996 RGD:8554872
G Myl9 myosin light chain 9 JBrowse link 3 152,857,573 152,863,961 RGD:1582589
G Mylk2 myosin light chain kinase 2 JBrowse link 3 148,386,185 148,397,851 RGD:8554872
G Myom1 myomesin 1 JBrowse link 9 119,353,840 119,469,196 RGD:8554872
G Myoz2 myozenin 2 JBrowse link 2 227,180,887 227,207,629 RGD:8554872
G Mypn myopalladin JBrowse link 20 26,988,820 27,074,106 RGD:8554872
G Nebl nebulette JBrowse link 17 84,141,014 84,247,038 RGD:8554872
G Nexn nexilin (F actin binding protein) JBrowse link 2 257,452,937 257,484,607 RGD:8554872
G Pdlim3 PDZ and LIM domain 3 JBrowse link 16 49,543,140 49,574,362 RGD:8554872
G Pkp2 plakophilin 2 JBrowse link 11 88,912,163 88,972,213 RGD:8554872
G Pln phospholamban JBrowse link 20 34,633,157 34,642,904 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 Raf1 Raf-1 proto-oncogene, serine/threonine kinase JBrowse link 4 147,532,040 147,592,769 RGD:8554872
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:8554872
G Scn5a sodium voltage-gated channel alpha subunit 5 JBrowse link 8 128,169,191 128,266,681 RGD:8554872
G Shoc2 SHOC2 leucine-rich repeat scaffold protein JBrowse link 1 274,700,621 274,751,195 RGD:8554872
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 JBrowse link 6 3,105,443 3,182,977 RGD:8554872
G Taf10 TATA-box binding protein associated factor 10 JBrowse link 1 170,585,160 170,586,428 RGD:8554872
G Taz tafazzin JBrowse link X 156,421,006 156,429,461 RGD:8554872
G Tcap titin-cap JBrowse link 10 86,337,705 86,338,414 RGD:8554872
G Tmem43 transmembrane protein 43 JBrowse link 4 123,118,468 123,133,610 RGD:8554872
G Tmpo thymopoietin JBrowse link 7 31,847,412 31,872,416 RGD:8554872
G Tnni3 troponin I3, cardiac type JBrowse link 1 72,882,806 72,886,490 RGD:8554872
RGD:11554173
G Tnnt1 troponin T1, slow skeletal type JBrowse link 1 72,889,270 72,899,629 RGD:8554872
G Tnnt2 troponin T2, cardiac type JBrowse link 13 52,662,974 52,680,992 RGD:1559062
RGD:8554872
RGD:11554173
G Tpm1 tropomyosin 1 JBrowse link 8 72,814,737 72,841,496 RGD:1580447
RGD:8554872
RGD:11554173
G Trim63 tripartite motif containing 63 JBrowse link 5 152,533,362 152,547,138 RGD:8554872
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
G Ttr transthyretin JBrowse link 18 15,532,963 15,542,180 RGD:8554872
G Txnrd2 thioredoxin reductase 2 JBrowse link 11 86,667,994 86,716,063 RGD:8554872
G Vcl vinculin JBrowse link 15 3,455,211 3,544,738 RGD:8554872
Apical Hypertrophic Cardiomyopathy and Neuropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mt-atp6 mitochondrially encoded ATP synthase 6 JBrowse link MT 7,919 8,599 RGD:8554872
G Mt-atp8 mitochondrially encoded ATP synthase 8 JBrowse link MT 7,758 7,961 RGD:7240710
RGD:8554872
autosomal dominant nonsyndromic deafness 22 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myo6 myosin VI JBrowse link 8 87,583,649 87,731,271 RGD:7240710
RGD:8554872
dilated cardiomyopathy 1KK term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mybpc3 myosin binding protein C, cardiac JBrowse link 3 79,940,509 79,958,731 RGD:8554872
G Mypn myopalladin JBrowse link 20 26,988,820 27,074,106 RGD:8554872
RGD:7240710
hypertrophic cardiomyopathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actn2 actinin alpha 2 JBrowse link 17 66,304,530 66,397,647 RGD:8554872
G Cacna1c calcium voltage-gated channel subunit alpha1 C JBrowse link 4 150,635,808 151,270,790 RGD:8554872
G Cav3 caveolin 3 JBrowse link 4 144,382,945 144,398,919 RGD:7240710
RGD:8554872
G Csrp3 cysteine and glycine rich protein 3 JBrowse link 1 104,147,205 104,166,389 RGD:8554872
G Lama4 laminin subunit alpha 4 JBrowse link 20 44,060,715 44,201,966 RGD:8554872
G Ldb3 LIM domain binding 3 JBrowse link 16 10,878,348 10,943,016 RGD:8554872
G Mybpc3 myosin binding protein C, cardiac JBrowse link 3 79,940,509 79,958,731 RGD:8554872
G Myh6 myosin heavy chain 6 JBrowse link 15 33,605,653 33,629,730 RGD:8554872
RGD:11554173
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:7240710
RGD:8554872
G Myl2 myosin light chain 2 JBrowse link 12 39,951,863 39,959,065 RGD:8554872
G Myl3 myosin light chain 3 JBrowse link 8 119,030,852 119,036,996 RGD:8554872
G Mylk2 myosin light chain kinase 2 JBrowse link 3 148,386,185 148,397,851 RGD:7240710
RGD:8554872
G Nexn nexilin (F actin binding protein) JBrowse link 2 257,452,937 257,484,607 RGD:8554872
G Sgcd sarcoglycan, delta JBrowse link 10 32,062,946 32,471,454 RGD:8554872
G Tnni3 troponin I3, cardiac type JBrowse link 1 72,882,806 72,886,490 RGD:8554872
G Tnnt2 troponin T2, cardiac type JBrowse link 13 52,662,974 52,680,992 RGD:8554872
G Tpm1 tropomyosin 1 JBrowse link 8 72,814,737 72,841,496 RGD:8554872
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
hypertrophic cardiomyopathy 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myl2 myosin light chain 2 JBrowse link 12 39,951,863 39,959,065 RGD:7240710
RGD:8554872
hypertrophic cardiomyopathy 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actc1 actin, alpha, cardiac muscle 1 JBrowse link 3 105,507,403 105,512,939 RGD:7240710
RGD:8554872
hypertrophic cardiomyopathy 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Csrp3 cysteine and glycine rich protein 3 JBrowse link 1 104,147,205 104,166,389 RGD:7240710
RGD:8554872
hypertrophic cardiomyopathy 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnnc1 troponin C1, slow skeletal and cardiac type JBrowse link 16 7,292,207 7,295,238 RGD:7240710
RGD:8554872
hypertrophic cardiomyopathy 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ldb3 LIM domain binding 3 JBrowse link 16 10,878,348 10,943,016 RGD:8554872
G Mir208b microRNA 208b JBrowse link 15 33,639,510 33,639,621 RGD:8554872
G Myh6 myosin heavy chain 6 JBrowse link 15 33,605,653 33,629,730 RGD:7240710
RGD:8554872
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:8554872
hypertrophic cardiomyopathy 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vcl vinculin JBrowse link 15 3,455,211 3,544,738 RGD:7240710
RGD:8554872
hypertrophic cardiomyopathy 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myoz2 myozenin 2 JBrowse link 2 227,180,887 227,207,629 RGD:7240710
RGD:8554872
hypertrophic cardiomyopathy 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Jph2 junctophilin 2 JBrowse link 3 159,709,998 159,776,536 RGD:7240710
RGD:8554872
hypertrophic cardiomyopathy 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep85l centrosomal protein 85-like JBrowse link 20 34,574,043 34,743,142 RGD:8554872
G Pln phospholamban JBrowse link 20 34,633,157 34,642,904 RGD:7240710
RGD:8554872
hypertrophic cardiomyopathy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnnt2 troponin T2, cardiac type JBrowse link 13 52,662,974 52,680,992 RGD:7240710
RGD:8554872
hypertrophic cardiomyopathy 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nexn nexilin (F actin binding protein) JBrowse link 2 257,452,937 257,484,607 RGD:7240710
RGD:8554872
hypertrophic cardiomyopathy 25 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tcap titin-cap JBrowse link 10 86,337,705 86,338,414 RGD:7240710
RGD:8554872
G Tnni3 troponin I3, cardiac type JBrowse link 1 72,882,806 72,886,490 RGD:8554872
hypertrophic cardiomyopathy 26 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flnc filamin C JBrowse link 4 56,710,934 56,738,779 RGD:8554872
RGD:7240710
Hypertrophic Cardiomyopathy 27 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alpk3 alpha-kinase 3 JBrowse link 1 142,882,997 142,931,940 RGD:8554872
RGD:7240710
hypertrophic cardiomyopathy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tpm1 tropomyosin 1 JBrowse link 8 72,814,737 72,841,496 RGD:7240710
RGD:8554872
hypertrophic cardiomyopathy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Braf B-Raf proto-oncogene, serine/threonine kinase JBrowse link 4 67,389,331 67,520,549 RGD:8554872
G Mybpc3 myosin binding protein C, cardiac JBrowse link 3 79,940,509 79,958,731 RGD:7240710
RGD:8554872
G Ncf1 neutrophil cytosolic factor 1 JBrowse link 12 25,497,104 25,506,300 RGD:8554872
G Ryr2 ryanodine receptor 2 JBrowse link 17 65,533,998 65,955,606 RGD:8554872
G Tcap titin-cap JBrowse link 10 86,337,705 86,338,414 RGD:8554872
hypertrophic cardiomyopathy 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 JBrowse link 4 6,559,153 6,799,888 RGD:7240710
RGD:8554872
hypertrophic cardiomyopathy 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnni3 troponin I3, cardiac type JBrowse link 1 72,882,806 72,886,490 RGD:7240710
RGD:8554872
hypertrophic cardiomyopathy 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myl3 myosin light chain 3 JBrowse link 8 119,030,852 119,036,996 RGD:7240710
RGD:8554872
hypertrophic cardiomyopathy 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          familial hypertrophic cardiomyopathy 86
            Apical Hypertrophic Cardiomyopathy and Neuropathy 2
            FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 19 0
            Hypertrophic Cardiomyopathy 27 1
            autosomal dominant nonsyndromic deafness 22 1
            dilated cardiomyopathy 1KK 2
            hypertrophic cardiomyopathy 1 18
            hypertrophic cardiomyopathy 10 1
            hypertrophic cardiomyopathy 11 1
            hypertrophic cardiomyopathy 12 1
            hypertrophic cardiomyopathy 13 1
            hypertrophic cardiomyopathy 14 4
            hypertrophic cardiomyopathy 15 1
            hypertrophic cardiomyopathy 16 1
            hypertrophic cardiomyopathy 17 1
            hypertrophic cardiomyopathy 18 2
            hypertrophic cardiomyopathy 2 1
            hypertrophic cardiomyopathy 20 1
            hypertrophic cardiomyopathy 21 0
            hypertrophic cardiomyopathy 25 2
            hypertrophic cardiomyopathy 26 1
            hypertrophic cardiomyopathy 3 1
            hypertrophic cardiomyopathy 4 5
            hypertrophic cardiomyopathy 6 1
            hypertrophic cardiomyopathy 7 1
            hypertrophic cardiomyopathy 8 1
            hypertrophic cardiomyopathy 9 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      cardiovascular system disease 4277
        vascular disease 3309
          artery disease 2187
            aortic disease 439
              aortic valve disease 242
                aortic valve stenosis 223
                  subvalvular aortic stenosis 182
                    hypertrophic cardiomyopathy 181
                      familial hypertrophic cardiomyopathy 86
                        Apical Hypertrophic Cardiomyopathy and Neuropathy 2
                        FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 19 0
                        Hypertrophic Cardiomyopathy 27 1
                        autosomal dominant nonsyndromic deafness 22 1
                        dilated cardiomyopathy 1KK 2
                        hypertrophic cardiomyopathy 1 18
                        hypertrophic cardiomyopathy 10 1
                        hypertrophic cardiomyopathy 11 1
                        hypertrophic cardiomyopathy 12 1
                        hypertrophic cardiomyopathy 13 1
                        hypertrophic cardiomyopathy 14 4
                        hypertrophic cardiomyopathy 15 1
                        hypertrophic cardiomyopathy 16 1
                        hypertrophic cardiomyopathy 17 1
                        hypertrophic cardiomyopathy 18 2
                        hypertrophic cardiomyopathy 2 1
                        hypertrophic cardiomyopathy 20 1
                        hypertrophic cardiomyopathy 21 0
                        hypertrophic cardiomyopathy 25 2
                        hypertrophic cardiomyopathy 26 1
                        hypertrophic cardiomyopathy 3 1
                        hypertrophic cardiomyopathy 4 5
                        hypertrophic cardiomyopathy 6 1
                        hypertrophic cardiomyopathy 7 1
                        hypertrophic cardiomyopathy 8 1
                        hypertrophic cardiomyopathy 9 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.