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progressive myoclonus epilepsy 1A - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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 the CSTB gene on chromosome 21q22.3. (DO)
Synonyms:exact_synonym: EPM1A
 primary_id: MIM:254800

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progressive myoclonus epilepsy 1A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cstb cystatin B ISO OMIM NCBI chr20:10,245,157...10,247,199
Ensembl chr20:10,245,462...10,247,526 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    syndrome 11403
      electroclinical syndrome 1518
        variable age at onset electroclinical syndrome 214
          progressive myoclonus epilepsy 208
            Unverricht-Lundborg syndrome 3
              progressive myoclonus epilepsy 1A 1
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        central nervous system disease 12640
          brain disease 11858
            movement disease 2631
              Dyskinesias 2230
                Myoclonus 410
                  Myoclonic Epilepsies 404
                    progressive myoclonus epilepsy 208
                      Unverricht-Lundborg syndrome 3
                        progressive myoclonus epilepsy 1A 1
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