Familial Adult Myoclonic Epilepsy 5
Disease ID: disease_node_16288
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| Dbxref | MIM:615400 |
|---|---|
| Subclassof | DOID_0050737, DOID_0111689 |
| Data Source | DOID |
| Synonyms | FAME5, FCMTE5, familial cortical myoclonic tremor and epilepsy 5 |
| Doid Label | familial adult myoclonic epilepsy 5 |
| Doid Description | A familial adult myoclonic epilepsy characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor that has_material_basis_in homozygous or compound heterozygous mutation in the CNTN2 gene on chromosome 1q32.1. |
| Existence Starts During | HP_0003581 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16288 |
| Doid Id | DOID_0111691 |
| Label | Familial Adult Myoclonic Epilepsy 5 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Familial Adult Myoclonic Epilepsy(ID:disease_node_16282) (Disease)