WormBase Tree Display for DO_term: DOID:3534
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| DOID:3534 | Name | Lafora disease | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Comment | OMIM mapping confirmed by DO. | ||||
| Synonym | Exact | Lafora Progressive Myoclonic Epilepsy | |||
| Lafora's disease | |||||
| MYOCLONIC EPILEPSY OF LAFORA | |||||
| Parent | Is_a | DOID:891 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 254780 | |
| Attribute_of | Gene_by_orthology | WBGene00189955 |
