Search Ontology:
Human Disease
familial adult myoclonic epilepsy 1
- Term ID
- DOID:0111690
- Synonyms
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- BAFME1
- benign adult familial myoclonic epilepsy 1
- FAME1
- familial cortical myoclonic tremor and epilepsy 1
- FCMTE1
- Definition
- 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. (2)
- References
- Ontology
- Human Disease ( DOID:0111690 )
- is a type of
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