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ONTOLOGY REPORT - ANNOTATIONS


Term:progressive myoclonus epilepsy
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Accession:DOID:891 term browser browse the term
Definition:A heterogeneous group of primarily familial disorders characterized by myoclonic seizures, tonic-clonic seizures, ataxia, progressive intellectual deterioration, and neuronal degeneration. These include LAFORA DISEASE; MERRF SYNDROME; NEURONAL CEROID-LIPOFUSCINOSIS; sialidosis (see MUCOLIPIDOSES), and UNVERRICHT-LUNDBORG SYNDROME.
Synonyms:exact_synonym: Biotin Responsive Encephalopathy;   Biotin-Responsive Encephalopathies;   Familial Progressive Myoclonic Epilepsy;   May White syndrome;   NOD;   PME;   action myoclonus renal failure syndrome;   atypical inclusion body disease;   atypical inclusion-body diseases;   myoclonus nephropathy syndrome;   myoclonus-nephropathy syndromes;   progressive myoclonic epilepsies;   progressive myoclonic epilepsy;   progressive myoclonus epilepsies
 narrow_synonym: NEURONAL CEROID-LIPOFUSCINOSIS, DOMINANT/RECESSIVE;   NEURONAL CEROID-LIPOFUSCINOSIS, RECESSIVE
 primary_id: MESH:D020191
 alt_id: OMIM:310370;   RDO:0004401
 xref: GARD:7140;   OMIM:PS254800
For additional species annotation, visit the Alliance of Genome Resources.


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progressive myoclonus epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abhd18 abhydrolase domain containing 18 JBrowse link 2 127,770,588 127,828,218 RGD:8554872
G Adsl adenylosuccinate lyase JBrowse link 7 122,157,201 122,192,328 RGD:8554872
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 JBrowse link 18 63,141,418 63,185,510 RGD:11554173
G Agpat3 1-acylglycerol-3-phosphate O-acyltransferase 3 JBrowse link 20 11,060,584 11,144,806 RGD:8554872
G Atn1 atrophin 1 JBrowse link 4 157,267,394 157,281,199 RGD:11554173
G Cbs cystathionine beta synthase JBrowse link 20 10,361,987 10,386,663 RGD:8554872
G Cers1 ceramide synthase 1 JBrowse link 16 20,845,580 20,860,789 RGD:11554173
G Chd2 chromodomain helicase DNA binding protein 2 JBrowse link 1 134,757,934 134,873,053 RGD:11554173
G Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin JBrowse link 1 197,986,384 197,999,726 RGD:8554872
G Cln5 CLN5, intracellular trafficking protein JBrowse link 15 93,634,815 93,644,146 RGD:8554872
G Cln6 CLN6, transmembrane ER protein JBrowse link 8 67,733,215 67,748,170 RGD:11554173
RGD:8554872
G Cryaa crystallin, alpha A JBrowse link 20 10,438,444 10,442,189 RGD:8554872
G Cstb cystatin B JBrowse link 20 10,966,357 10,968,399 RGD:8554872
G Ctsd cathepsin D JBrowse link 1 215,541,570 215,553,446 RGD:8554872
G Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 JBrowse link 3 177,012,714 177,047,787 RGD:8554872
G Epm2a EPM2A glucan phosphatase, laforin JBrowse link 1 5,448,958 5,571,512 RGD:9685621
RGD:8554872
RGD:11554173
G Fbxl3 F-box and leucine-rich repeat protein 3 JBrowse link 15 93,647,307 93,667,395 RGD:8554872
G Gatd3a glutamine amidotransferase like class 1 domain containing 3A JBrowse link 20 11,244,353 11,252,450 RGD:8554872
G Gosr2 golgi SNAP receptor complex member 2 JBrowse link 10 91,735,772 91,756,123 RGD:8554872
RGD:11554173
G Hsf2bp heat shock transcription factor 2 binding protein JBrowse link 20 10,757,172 10,844,177 RGD:8554872
G Kcnc1 potassium voltage-gated channel subfamily C member 1 JBrowse link 1 102,414,352 102,456,718 RGD:11554173
G Kctd7 potassium channel tetramerization domain containing 7 JBrowse link 12 30,024,080 30,033,357 RGD:8554872
RGD:13592920
G Lmnb2 lamin B2 JBrowse link 7 11,657,870 11,676,936 RGD:11554173
G Mfsd8 major facilitator superfamily domain containing 8 JBrowse link 2 127,706,618 127,784,129 RGD:8554872
G Ndufv3 NADH:ubiquinone oxidoreductase subunit V3 JBrowse link 20 10,265,826 10,275,298 RGD:8554872
G Neu1 neuraminidase 1 JBrowse link 20 4,610,995 4,615,258 RGD:11554173
G Nhlrc1 NHL repeat containing E3 ubiquitin protein ligase 1 JBrowse link 17 18,059,382 18,060,572 RGD:11554173
G Optn optineurin JBrowse link 17 77,167,700 77,218,374 RGD:724387
RGD:6480499
G Pde9a phosphodiesterase 9A JBrowse link 20 10,123,624 10,216,325 RGD:8554872
G Pdxk pyridoxal kinase JBrowse link 20 10,930,651 10,952,194 RGD:8554872
G Pknox1 PBX/knotted 1 homeobox 1 JBrowse link 20 10,331,608 10,358,922 RGD:8554872
G Ppt1 palmitoyl-protein thioesterase 1 JBrowse link 5 140,538,260 140,558,163 RGD:8554872
G Prdm8 PR/SET domain 8 JBrowse link 14 13,052,776 13,073,583 RGD:11554173
G Prickle1 prickle planar cell polarity protein 1 JBrowse link 7 134,702,964 134,799,437 RGD:13592920
G Prickle2 prickle planar cell polarity protein 2 JBrowse link 4 124,238,167 124,584,176 RGD:8554872
G Prnp prion protein JBrowse link 3 124,515,917 124,531,320 RGD:11554173
G Pwp2 PWP2, small subunit processome component JBrowse link 20 11,228,892 11,243,204 RGD:8554872
G Rrp1 ribosomal RNA processing 1 JBrowse link 20 10,982,016 10,993,260 RGD:8554872
G Rrp1b ribosomal RNA processing 1B JBrowse link 20 10,844,234 10,869,830 RGD:8554872
G Rsph1 radial spoke head component 1 JBrowse link 20 9,998,698 10,020,719 RGD:8554872
G Sacs sacsin molecular chaperone JBrowse link 15 41,448,078 41,530,412 RGD:11554173
G Scarb2 scavenger receptor class B, member 2 JBrowse link 14 17,064,173 17,115,620 RGD:8554872
RGD:13592920
G Serpini1 serpin family I member 1 JBrowse link 2 174,013,058 174,111,693 RGD:11554173
G Sik1 salt-inducible kinase 1 JBrowse link 20 10,670,747 10,680,279 RGD:8554872
G Slc37a1 solute carrier family 37 member 1 JBrowse link 20 10,026,839 10,087,691 RGD:8554872
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 JBrowse link 5 136,765,309 136,965,642 RGD:8554872
G Tbc1d24 TBC1 domain family, member 24 JBrowse link 10 13,551,100 13,576,739 RGD:11554173
G Tpp1 tripeptidyl peptidase 1 JBrowse link 1 170,588,036 170,594,159 RGD:8554872
G Trappc10 trafficking protein particle complex 10 JBrowse link 20 11,168,298 11,228,634 RGD:8554872
G Tsc1 TSC complex subunit 1 JBrowse link 3 7,219,955 7,269,063 RGD:11554173
G U2af1 U2 small nuclear RNA auxiliary factor 1 JBrowse link 20 10,396,652 10,407,564 RGD:8554872
G Wdr4 WD repeat domain 4 JBrowse link 20 10,240,571 10,264,818 RGD:8554872
dentatorubral-pallidoluysian atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atn1 atrophin 1 JBrowse link 4 157,267,394 157,281,199 RGD:7240710
Jankovic Rivera Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Asah1 N-acylsphingosine amidohydrolase 1 JBrowse link 16 53,998,604 54,030,006 RGD:7240710
RGD:8554872
Lafora disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Epm2a EPM2A glucan phosphatase, laforin JBrowse link 1 5,448,958 5,571,512 RGD:7240710
RGD:8554872
G Nhlrc1 NHL repeat containing E3 ubiquitin protein ligase 1 JBrowse link 17 18,059,382 18,060,572 RGD:7240710
RGD:8554872
MERRF Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:11554173
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11554173
G Mt-nd5 mitochondrially encoded NADH dehydrogenase 5 JBrowse link MT 11,736 13,565 RGD:8554872
Progressive Myoclonic Epilepsy 2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nhlrc1 NHL repeat containing E3 ubiquitin protein ligase 1 JBrowse link 17 18,059,382 18,060,572 RGD:8554872
progressive myoclonus epilepsy 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prdm8 PR/SET domain 8 JBrowse link 14 13,052,776 13,073,583 RGD:7240710
RGD:8554872
progressive myoclonus epilepsy 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cstb cystatin B JBrowse link 20 10,966,357 10,968,399 RGD:7240710
progressive myoclonus epilepsy 1B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prickle1 prickle planar cell polarity protein 1 JBrowse link 7 134,702,964 134,799,437 RGD:8554872
RGD:7240710
G Tbc1d24 TBC1 domain family, member 24 JBrowse link 10 13,551,100 13,576,739 RGD:8554872
progressive myoclonus epilepsy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin JBrowse link 1 197,986,384 197,999,726 RGD:8554872
G Kctd7 potassium channel tetramerization domain containing 7 JBrowse link 12 30,024,080 30,033,357 RGD:7240710
RGD:8554872
progressive myoclonus epilepsy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scarb2 scavenger receptor class B, member 2 JBrowse link 14 17,064,173 17,115,620 RGD:7240710
RGD:8554872
progressive myoclonus epilepsy 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gosr2 golgi SNAP receptor complex member 2 JBrowse link 10 91,735,772 91,756,123 RGD:7240710
RGD:8554872
progressive myoclonus epilepsy 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnc1 potassium voltage-gated channel subfamily C member 1 JBrowse link 1 102,414,352 102,456,718 RGD:7240710
RGD:8554872
progressive myoclonus epilepsy 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cers1 ceramide synthase 1 JBrowse link 16 20,845,580 20,860,789 RGD:8554872
RGD:7240710
G Gdf1 growth differentiation factor 1 JBrowse link 16 20,845,580 20,860,789 RGD:8554872
progressive myoclonus epilepsy 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmnb2 lamin B2 JBrowse link 7 11,657,870 11,676,936 RGD:8554872
RGD:7240710
Unverricht-Lundborg syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cstb cystatin B JBrowse link 20 10,966,357 10,968,399 RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15626
    syndrome 5163
      electroclinical syndrome 333
        variable age at onset electroclinical syndrome 62
          progressive myoclonus epilepsy 57
            Amyotrophic Lateral Sclerosis with Polyglucosan Bodies 0
            Jankovic Rivera Syndrome 1
            Lafora disease 2
            MERRF Syndrome + 3
            Progressive Myoclonic Epilepsy 2B 1
            Unverricht-Lundborg syndrome + 3
            dentatorubral-pallidoluysian atrophy 1
            progressive myoclonus epilepsy 10 1
            progressive myoclonus epilepsy 3 2
            progressive myoclonus epilepsy 4 1
            progressive myoclonus epilepsy 6 1
            progressive myoclonus epilepsy 7 1
            progressive myoclonus epilepsy 8 2
            progressive myoclonus epilepsy 9 1
Path 2
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      nervous system disease 10224
        central nervous system disease 8102
          brain disease 7571
            movement disease 1001
              Dyskinesias 711
                Myoclonus 90
                  Myoclonic Epilepsies 86
                    progressive myoclonus epilepsy 57
                      Amyotrophic Lateral Sclerosis with Polyglucosan Bodies 0
                      Jankovic Rivera Syndrome 1
                      Lafora disease 2
                      MERRF Syndrome + 3
                      Progressive Myoclonic Epilepsy 2B 1
                      Unverricht-Lundborg syndrome + 3
                      dentatorubral-pallidoluysian atrophy 1
                      progressive myoclonus epilepsy 10 1
                      progressive myoclonus epilepsy 3 2
                      progressive myoclonus epilepsy 4 1
                      progressive myoclonus epilepsy 6 1
                      progressive myoclonus epilepsy 7 1
                      progressive myoclonus epilepsy 8 2
                      progressive myoclonus epilepsy 9 1
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.