Search Ontology:
Human Disease
Lafora disease
- Term ID
- DOID:3534
- Synonyms
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- Lafora Progressive Myoclonic Epilepsy
- Lafora's disease
- MYOCLONIC EPILEPSY OF LAFORA
- Definition
- 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. (2)
- References
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- GARD:8214
- MESH:D020192
- MIM:254780
- NCI:C84804
- SNOMEDCT_US_2023_03_01:230425004
- UMLS_CUI:C0751783
- Ontology
- Human Disease ( DOID:3534 )
- is a type of
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