familial adult myoclonic epilepsy 7 Disease Ontology Browser

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Disease Ontology Browser

familial adult myoclonic epilepsy 7 (DOID:0111694)
Alliance: disease page
Synonyms: BAFME7; benign adult familial myoclonic epilepsy 7; FAME7; familial cortical myoclonic tremor and epilepsy 7; FCMTE7
Alt IDs: OMIM:618075
Definition: A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the RAPGEF2 gene on chromosome 4q32.1.

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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