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DOID:0111452 - progressive myoclonus epilepsy 1A
Disease Ontology Definition:An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous in the CSTB gene on chromosome 21q22.3.
Synonyms: EPM1A,
Xenbase Genes : cstb
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee