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Disease Ontology Browser
progressive myoclonus epilepsy 8 (DOID:0111451)
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Synonyms: EMP8; PME type 8; progressive myoclonic epilepsy due to CERS1 deficiency; progressive myoclonus epilepsy type 8
Alt IDs: OMIM:616230, ORDO:424027
Definition: A progressive myoclonus epilepsy characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in CERS1 on chromosome 19p13.11.

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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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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory