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Metadata
ID DOID:0070660
PURL http://purl.obolibrary.org/obo/DOID_0070660 Copy
Name Lafora disease 1
Definition A Lafora disease that has_material_basis_in homozygous or compound heterozygous mutation in the EPM2A gene on chromosome 6q24.
https://pubmed.ncbi.nlm.nih.gov/19469843/
Xrefs

MIM:254780

Synonyms

progressive myoclonic epilepsy 2A [EXACT]

Parent Relationships

is_a Lafora disease

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