Familial Adult Myoclonic Epilepsy 1
Disease ID: disease_node_16289
Connections displayed (default: 10).
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| Dbxref | MIM:601068 |
|---|---|
| Subclassof | DOID_0050736, DOID_0111689 |
| Data Source | DOID |
| Synonyms | BAFME1, FAME1, FCMTE1, benign adult familial myoclonic epilepsy 1, familial cortical myoclonic tremor and epilepsy 1 |
| Doid Label | familial adult myoclonic epilepsy 1 |
| Doid Description | A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the SAMD12 gene on chromosome 8q24.11-q24.12. |
| Existence Starts During | HP_0003581 |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_16289 |
| Doid Id | DOID_0111690 |
| Label | Familial Adult Myoclonic Epilepsy 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Familial Adult Myoclonic Epilepsy(ID:disease_node_16282) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)