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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:Lafora disease
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Accession:DOID:3534 term browser browse the term
Definition:A progressive myoclonus epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations, and progressive neurological decline with onset between 8 and 18 years of age that has_material_basis_in homozygous or compound heterozygous mutation in either NHLRC1 on chromosome 6p22.3 or EPM2A on chromosome 6q24.3. (DO)
Synonyms:exact_synonym: EPM2;   LBD;   Lafora Body Disorder;   Lafora Myoclonic Epilepsy;   Lafora Progressive Myoclonic Epilepsy;   Lafora Progressive Myoclonus Epilepsy;   Lafora body disease;   Lafora type progressive myoclonic epilepsy;   Lafora's disease;   MELF;   epilepsy progressive myoclonic 2;   late-onset Lafora body disease;   myoclonic epilepsy of Lafora;   myoclonus epilepsy of Lafora;   progressive myoclonic epilepsy type 2;   progressive myoclonus epilepsy, Lafora type
 primary_id: MESH:D020192
 alt_id: OMIA:000690
 xref: GARD:8214;   NCI:C84804;   OMIM:PS254780
For additional species annotation, visit the Alliance of Genome Resources.


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Lafora disease 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: Lafora disease ClinVar PMID:9771710 PMID:9931343 PMID:10932264 PMID:11175283 PMID:11735300 More... NCBI chrNW_004936625:761,013...819,826
Ensembl chrNW_004936625:738,124...821,566
JBrowse link
G Nhlrc1 NHL repeat containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Lafora disease ClinVar PMID:12958597 PMID:12960212 PMID:15781812 PMID:15930137 PMID:16021330 More... NCBI chrNW_004936552:3,891,350...3,893,566
Ensembl chrNW_004936552:3,892,372...3,893,559
JBrowse link
G Tpmt thiopurine S-methyltransferase ISO ClinVar Annotator: match by term: Lafora disease ClinVar PMID:15781812 PMID:17389303 PMID:23317923 PMID:28492532 NCBI chrNW_004936552:3,899,445...3,917,774
Ensembl chrNW_004936552:3,897,375...3,917,772
JBrowse link
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 OMIM NCBI chrNW_004936625:761,013...819,826
Ensembl chrNW_004936625:738,124...821,566
JBrowse link
Myoclonic Epilepsy of Lafora 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nhlrc1 NHL repeat containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 2b OMIM
ClinVar
PMID:12958597 PMID:12960212 PMID:15781812 PMID:15930137 PMID:16134145 More... NCBI chrNW_004936552:3,891,350...3,893,566
Ensembl chrNW_004936552:3,892,372...3,893,559
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9443
      electroclinical syndrome 1252
        variable age at onset electroclinical syndrome 182
          progressive myoclonus epilepsy 179
            Lafora disease 3
              Myoclonic Epilepsy of Lafora 1 1
              Myoclonic Epilepsy of Lafora 2 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14107
      nervous system disease 12321
        central nervous system disease 11034
          brain disease 10356
            movement disease 2371
              Dyskinesias 2028
                Myoclonus 360
                  Myoclonic Epilepsies 353
                    progressive myoclonus epilepsy 179
                      Lafora disease 3
                        Myoclonic Epilepsy of Lafora 1 1
                        Myoclonic Epilepsy of Lafora 2 1
paths to the root