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ONTOLOGY REPORT - ANNOTATIONS


Term:progressive myoclonus epilepsy 6
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Accession:DOID:0111449 term browser browse the term
Definition:A progressive myoclonus epilepsy characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade that has_material_basis_in homozygous or compound heterozygous mutation in GOSR2 on chromosome 17q21.32. (DO)
Synonyms:exact_synonym: EPM6;   GOSR2-related progressive myoclonus ataxia;   North Sea progressive myoclonus epilepsy;   PME type 6;   Progressive Myoclonic Epilepsy 6;   Progressive myoclonus epilepsy type 6
 primary_id: OMIM:614018
 alt_id: DOID:9005407;   RDO:9000292
 xref: GARD:3872;   ORDO:280620
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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    syndrome 5231
      electroclinical syndrome 338
        variable age at onset electroclinical syndrome 62
          progressive myoclonus epilepsy 57
            progressive myoclonus epilepsy 6 1
Path 2
Term Annotations click to browse term
  disease 15602
    disease of anatomical entity 14933
      nervous system disease 10260
        central nervous system disease 8136
          brain disease 7608
            movement disease 1011
              Dyskinesias 717
                Myoclonus 93
                  Myoclonic Epilepsies 89
                    progressive myoclonus epilepsy 57
                      progressive myoclonus epilepsy 6 1
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