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ONTOLOGY REPORT - ANNOTATIONS


Term:progressive myoclonus epilepsy 7
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Accession:DOID:0111447 term browser browse the term
Definition:A progressive myoclonus epilepsy characterized by onset of severe progressive myoclonus and infrequent tonic-clonic seizures in the first or second decades of life that has_material_basis_in heterozygous mutation in KCNC1 on chromosome 11p15.1. (DO)
Synonyms:exact_synonym: EPM7;   MEAK;   PME type 7;   Progressive Myoclonic Epilepsy 7;   Progressive myoclonic epilepsy due to KV3.1 deficiency;   myoclonus epilepsy and ataxia due to potassium channel mutation;   progressive myoclonus epilepsy type 7
 primary_id: OMIM:616187
 xref: ORDO:435438
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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

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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 7 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 7 1
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