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ONTOLOGY REPORT - ANNOTATIONS


Term:progressive myoclonus epilepsy 1B
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Accession:DOID:0111448 term browser browse the term
Definition:An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous mutation in PRICKLE1 on chromosome 12q12. (DO)
Synonyms:exact_synonym: Epm1b;   PRICKLE1-related progressive myoclonic epilepsy with ataxia;   PRICKLE1-related progressive myoclonus epilepsy with ataxia;   Pme with Ataxia;   Progressive Myoclonic Epilepsy 1b;   Progressive Myoclonus Epilepsy with Ataxia
 primary_id: MESH:C580388
 alt_id: OMIM:612437
For additional species annotation, visit the Alliance of Genome Resources.


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progressive myoclonus epilepsy 1B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prickle1 prickle planar cell polarity protein 1 JBrowse link 7 134,702,964 134,799,437 RGD:8554872
RGD:7240710
G Tbc1d24 TBC1 domain family, member 24 JBrowse link 10 13,551,100 13,576,739 RGD:8554872

Term paths to the root
Path 1
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  disease 15553
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7613
        genetic disease 7096
          Nervous System Heredodegenerative Disorders 1728
            Unverricht-Lundborg syndrome 3
              progressive myoclonus epilepsy 1B 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
                      Unverricht-Lundborg syndrome 3
                        progressive myoclonus epilepsy 1B 2
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