Familial Adult Myoclonic Epilepsy 3
Disease ID: disease_node_16284
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| Dbxref | MIM:613608 |
|---|---|
| Subclassof | DOID_0050736, DOID_0111689 |
| Data Source | DOID |
| Synonyms | FAME3, FCMTE3, familial cortical myoclonic tremor and epilepsy 3 |
| Doid Label | familial adult myoclonic epilepsy 3 |
| Doid Description | A familial adult myoclonic epilepsy characterized by onset between 10 and 40 years of age of cortical tremor, mainly affecting the hands and voice that has_material_basis_in a heterozygous 5-bp repeat expansion in the MARCHF6 gene on chromosome 5p15.2. |
| Existence Starts During | HP_0003581 |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_16284 |
| Doid Id | DOID_0111695 |
| Label | Familial Adult Myoclonic Epilepsy 3 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Familial Adult Myoclonic Epilepsy(ID:disease_node_16282) (Disease)