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DOID:0111448 - progressive myoclonus epilepsy 1B
Disease Ontology Definition:An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PRICKLE1 gene on chromosome 12q12.
Synonyms: EPM1B
Xenbase Genes : prickle1
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee