Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:progressive myoclonus epilepsy 9
go back to main search page
Accession:DOID:0111450 term browser browse the term
Definition:A progressive myoclonus epilepsy characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia that has_material_basis_in homozygous or compound heterozygous mutation in LMNB2 on chromosome 19p13.3. (DO)
Synonyms:exact_synonym: EMP9;   EPM9;   PME type 9;   progressive myoclonic epilepsy 9;   progressive myoclonic epilepsy due to LMNB2 deficiency;   progressive myoclonus epilepsy type 9
 primary_id: OMIM:616540
 xref: ORDO:457265
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
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

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 9 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 9 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.