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ONTOLOGY REPORT - ANNOTATIONS


Term:Unverricht-Lundborg syndrome
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Accession:DOID:3535 term browser browse the term
Definition:An autosomal recessive condition characterized by recurrent myoclonic and generalized seizures, ATAXIA, slowly progressive intellectual deterioration, dysarthria, and intention tremor. Myoclonic seizures are severe and continuous, and tend to be triggered by movement, stress, and sensory stimuli. The age of onset is between 8 and 13 years, and the condition is relatively frequent in the Baltic region, especially Finland. (From Menkes, Textbook of Child Neurology, 5th ed, pp109-110)
Synonyms:exact_synonym: Baltic Myoclonus Epilepsy;   Baltic myoclonic epilepsies;   Baltic myoclonic epilepsy;   Baltic myoclonus;   Baltic myoclonus epilepsies;   EPM1;   Epilepsy, Progressive Myoclonic 1;   Epilepsy, Progressive Myoclonic Type 1;   Mediterranean Myoclonic Epilepsy;   Myoclonic Epilepsy of Unverricht and Lundborg;   Myoclonus Progressive Epilepsy of Unverricht and Lundborg;   ULD;   Unverricht Lundborg disease;   Unverricht disease;   Unverricht diseases;   Unverricht's disease;   progressive myoclonus epilepsy 1
 primary_id: MESH:D020194
 alt_id: OMIM:254800
 xref: GARD:3876
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Unverricht-Lundborg syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cstb cystatin B JBrowse link 20 10,966,357 10,968,399 RGD:8554872
RGD:11554173
RGD:7240710
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
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

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Path 1
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  disease 15992
    Developmental Diseases 9280
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8094
        genetic disease 7612
          Nervous System Heredodegenerative Disorders 1896
            Unverricht-Lundborg syndrome 3
              progressive myoclonus epilepsy 1A 1
              progressive myoclonus epilepsy 1B 2
Path 2
Term Annotations click to browse term
  disease 15992
    disease of anatomical entity 15263
      nervous system disease 10756
        central nervous system disease 8844
          brain disease 8133
            movement disease 1064
              Dyskinesias 776
                Myoclonus 84
                  Myoclonic Epilepsies 80
                    progressive myoclonus epilepsy 47
                      Unverricht-Lundborg syndrome 3
                        progressive myoclonus epilepsy 1A 1
                        progressive myoclonus epilepsy 1B 2
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