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Disease Ontology Browser
Lafora disease 1 (DOID:0070660)
Alliance: disease page
Synonyms: progressive myoclonic epilepsy 2A
Alt IDs: OMIM:254780
Definition: A Lafora disease that has_material_basis_in homozygous or compound heterozygous mutation in the EPM2A gene on chromosome 6q24.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
09/30/2025
MGI 6.24 		The Jackson Laboratory