familial adult myoclonic epilepsy 1 Disease Ontology Browser

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Disease Ontology Browser

familial adult myoclonic epilepsy 1 (DOID:0111690)
Alliance: disease page
Synonyms: BAFME1; benign adult familial myoclonic epilepsy 1; FAME1; familial cortical myoclonic tremor and epilepsy 1; FCMTE1
Alt IDs: OMIM:601068
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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