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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 form of stimulus sensitive myoclonic epilepsy inherited as an autosomal recessive condition. The most common presenting feature is a single seizure in the second decade of life. This is followed by progressive myoclonus, myoclonic seizures, tonic-clonic seizures, focal occipital seizures, intellectual decline, and severe motor and coordination impairments. Most affected individuals do not live past the age of 25 years. Concentric amyloid (Lafora) bodies are found in neurons, liver, skin, bone, and muscle (From Menkes, Textbook of Childhood Neurology, 5th ed, pp111-110)
Synonyms:exact_synonym: EPM2;   EPM2A;   LBD;   Lafora Body Disease;   Lafora Body Disorder;   Lafora Myoclonic Epilepsy;   Lafora Progressive Myoclonic Epilepsy;   Lafora Progressive Myoclonus Epilepsy;   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 2A;   progressive myoclonic epilepsy type 2;   progressive myoclonus epilepsy, Lafora type
 narrow_synonym: EPM2B;   progressive myoclonic epilepsy 2B
 primary_id: MESH:D020192
 alt_id: OMIA:000690;   OMIM:254780
 xref: GARD:8214;   NCI:C84804
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 Annotator: match by OMIM:254780		 OMIM
ClinVar		 PMID:9771710 PMID:9931343 PMID:10932264 PMID:11175283 PMID:11735300 PMID:11739371 PMID:12019207 PMID:14706656 PMID:14722920 PMID:16021330 PMID:16134145 PMID:17010495 PMID:17389303 PMID:21623095 PMID:25246353 PMID:25544560 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:5,448,958...5,571,512
Ensembl chr 1:5,448,958...5,571,512 		JBrowse link
G Nhlrc1 NHL repeat containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by OMIM:254780
ClinVar Annotator: match by term: Lafora disease		 OMIM
ClinVar		 PMID:12958597 PMID:12960212 PMID:15781812 PMID:15930137 PMID:16021330 PMID:16134145 PMID:16190947 PMID:16311711 PMID:16529633 PMID:16950819 PMID:17952067 PMID:18029386 PMID:18256682 PMID:18263761 PMID:18311786 PMID:18414213 PMID:19322595 PMID:19744044 PMID:20301563 PMID:20738377 PMID:21505799 PMID:22047982 PMID:22815132 PMID:23806086 PMID:25270369 PMID:25667860 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28556688 PMID:29431110 PMID:29588937 PMID:29899791 PMID:30701169 PMID:31227012 PMID:31758957 PMID:31858178 NCBI chr17:18,059,382...18,060,572
Ensembl chr17:18,059,382...18,060,572 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    syndrome 7057
      electroclinical syndrome 390
        variable age at onset electroclinical syndrome 52
          progressive myoclonus epilepsy 47
            Lafora disease 2
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      nervous system disease 10977
        central nervous system disease 9099
          brain disease 8407
            movement disease 1097
              Dyskinesias 795
                Myoclonus 85
                  Myoclonic Epilepsies 80
                    progressive myoclonus epilepsy 47
                      Lafora disease 2
paths to the root