Progressive Myoclonus Epilepsy 8
Disease ID: disease_node_16295
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| Dbxref | MIM:616230, ORDO:424027 |
|---|---|
| Subclassof | DOID_891, DOID_0050737 |
| Data Source | DOID |
| Synonyms | EMP8, PME type 8, progressive myoclonic epilepsy due to CERS1 deficiency, progressive myoclonus epilepsy type 8 |
| Doid Label | progressive myoclonus epilepsy 8 |
| Doid Description | A progressive myoclonus epilepsy characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in CERS1 on chromosome 19p13.11. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16295 |
| Doid Id | DOID_0111451 |
| Label | Progressive Myoclonus Epilepsy 8 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)