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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:29588937, PMID:29899791, PMID:30701169 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 16058
    syndrome 6996
      electroclinical syndrome 396
        variable age at onset electroclinical syndrome 55
          progressive myoclonus epilepsy 49
            Lafora disease 2
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            movement disease 1159
              Dyskinesias 870
                Myoclonus 90
                  Myoclonic Epilepsies 82
                    progressive myoclonus epilepsy 49
                      Lafora disease 2
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.