Search Ontology:
Human Disease

Lafora disease 1

Term ID
DOID:0070660
Synonyms
  • progressive myoclonic epilepsy 2A
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/
References
Ontology
Human Disease   ( DOID:0070660 )
Relationships
Other Pages
Genes Involved
Zebrafish Models
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