Lafora Disease
Disease ID: disease_node_10193
Connections displayed (default: 10).
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| Dbxref | GARD:8214, MESH:D020192, MIM:254780, NCI:C84804, SNOMEDCT_US_2023_03_01:230425004, UMLS_CUI:C0751783 |
|---|---|
| Subclassof | DOID_891, DOID_0050737 |
| Data Source | DOID, MESH |
| Synonyms | Lafora Progressive Myoclonic Epilepsy, Lafora's disease, MYOCLONIC EPILEPSY OF LAFORA |
| Mesh Id | D020192 |
| Mesh Label | Lafora Disease |
| Mesh Subclassof | D020271, D020191 |
| Doid Label | Lafora disease |
| Doid Description | 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. OMIM mapping confirmed by DO. [SN]. |
| Has Symptom | SYMP_0000607 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_10193 |
| Doid Id | DOID_3534 |
| Label | Lafora Disease |
- Outgoing r'ship
HAS_SYMPTOMto/from Hallucination(ID:disease_node_21115) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)