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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.


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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last database update
02/11/2020
MGI 6.14
The Jackson Laboratory