|
General Information
|
| Term |
familial adult myoclonic epilepsy 1 |
ID (Ontology) |
DOID:0111690 (Human Disease) |
| 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. |
| Also Known As |
"BAFME1" ; "benign adult familial myoclonic epilepsy 1" ; "FAME1" (for all, see Synonyms field below) |
| Comment |
|
|
Links to External Ontologies
|
|
DO.org
|
|
Annotations
|
|
Records annotated with this term OR any of its CHILD TERMS
|
|
|
|
Records annotated with this exact term (annotations to child terms are NOT included)
|
|
No relevant records available
|
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
| Full annotation statements | Relevant FlyBase reports |
|---|
| Genes |
|---|
familial adult myoclonic epilepsy 1 | 1 | for disease ribbon | familial adult myoclonic epilepsy 1 | 1 | model of | familial adult myoclonic epilepsy 1 | 1 |
|
Relationships