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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:Myoclonic Epilepsy of Lafora 1
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Accession:DOID:9005547 term browser browse the term
Synonyms:exact_synonym: EPM2A;   Lafora disease 1;   MELF1;   progressive myoclonic epilepsy 2A
 primary_id: OMIM:254780


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Myoclonic Epilepsy of Lafora 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epm2a EPM2A glucan phosphatase, laforin ISO ClinVar Annotator: match by term: Myoclonic epilepsy of Lafora 1 OMIM
ClinVar		 PMID:25741905 NCBI chr 1:5,727,111...5,845,338
Ensembl chr 1:5,727,066...5,920,555 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10832
      electroclinical syndrome 1351
        variable age at onset electroclinical syndrome 202
          progressive myoclonus epilepsy 197
            Lafora disease 3
              Myoclonic Epilepsy of Lafora 1 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        central nervous system disease 12399
          brain disease 11634
            movement disease 2576
              Dyskinesias 2190
                Myoclonus 379
                  Myoclonic Epilepsies 372
                    progressive myoclonus epilepsy 197
                      Lafora disease 3
                        Myoclonic Epilepsy of Lafora 1 1
paths to the root