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.
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