Progressive Myoclonus Epilepsy 9
Disease ID: disease_node_16296
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| Dbxref | MIM:616540, ORDO:457265 |
|---|---|
| Subclassof | DOID_891, DOID_0050737 |
| Data Source | DOID |
| Synonyms | EMP9, PME type 9, progressive myoclonic epilepsy due to LMNB2 deficiency, progressive myoclonus epilepsy type 9 |
| Doid Label | progressive myoclonus epilepsy 9 |
| Doid Description | A progressive myoclonus epilepsy characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the LMNB2 gene on chromosome 19p13.3. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16296 |
| Doid Id | DOID_0111450 |
| Label | Progressive Myoclonus Epilepsy 9 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)