RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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. (DO)
Synonyms:
exact_synonym:
BAFME1; FAME1; FCMTE1; benign adult familial myoclonic epilepsy 1; benign adult familial myoclonic epilepsy, type 1; familial cortical myoclonic tremor and epilepsy 1; familial cortical myoclonic tremor with epilepsy; familial cortical myoclonic tremor with epilepsy 1; familial cortical tremor