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ONTOLOGY REPORT - ANNOTATIONS


Term:progressive myoclonus epilepsy 8
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Accession:DOID:0111451 term browser browse the term
Definition:A progressive myoclonus epilepsy characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in CERS1 on chromosome 19p13.11. (DO)
Synonyms:exact_synonym: EMP8;   EPM8;   PME type 8;   progressive myoclonic epilepsy 8;   progressive myoclonic epilepsy due to CERS1 deficiency;   progressive myoclonus epilepsy type 8
 primary_id: OMIM:616230
 xref: ORDO:424027
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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    syndrome 5224
      electroclinical syndrome 338
        variable age at onset electroclinical syndrome 62
          progressive myoclonus epilepsy 57
            progressive myoclonus epilepsy 8 2
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        central nervous system disease 8267
          brain disease 7613
            movement disease 1010
              Dyskinesias 716
                Myoclonus 93
                  Myoclonic Epilepsies 89
                    progressive myoclonus epilepsy 57
                      progressive myoclonus epilepsy 8 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.