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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 CSTB on chromosome 21q22.3. (DO)
Synonyms:exact_synonym: EPM1A
 primary_id: OMIM:254800
For additional species annotation, visit the Alliance of Genome Resources.


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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 chr20:10,966,357...10,968,399
Ensembl chr20:10,966,331...10,968,432
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      electroclinical syndrome 393
        variable age at onset electroclinical syndrome 54
          progressive myoclonus epilepsy 48
            Unverricht-Lundborg syndrome 3
              progressive myoclonus epilepsy 1A 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          brain disease 8330
            movement disease 1156
              Dyskinesias 867
                Myoclonus 88
                  Myoclonic Epilepsies 81
                    progressive myoclonus epilepsy 48
                      Unverricht-Lundborg syndrome 3
                        progressive myoclonus epilepsy 1A 1
paths to the root

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