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ONTOLOGY REPORT - ANNOTATIONS


Term:progressive myoclonus epilepsy 1A
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Accession:DOID:0111452 term browser browse the term
Definition:An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous in CSTB on chromosome 21q22.3. (DO)
Synonyms:exact_synonym: EPM1A
 primary_id: OMIM:254800
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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

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
            Unverricht-Lundborg syndrome 3
              progressive myoclonus epilepsy 1A 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
                      Unverricht-Lundborg syndrome 3
                        progressive myoclonus epilepsy 1A 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.