|
| General Information | |||
|---|---|---|---|
| Term | progressive myoclonus epilepsy 8 | ID (Ontology) | DOID:0111451 (Human Disease) |
| 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. | ||
| Also Known As | "EMP8" ; "PME type 8" ; "progressive myoclonic epilepsy due to CERS1 deficiency" (for all, see Synonyms field below) | ||
| Comment | |||
| Links to External Ontologies | |||
| DO.org | |||
| Annotations | |||
| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
|||
|
No relevant statements available
|
|||
|
||||||
variable age at onset electroclinical syndrome |__progressive myoclonus epilepsy__ autosomal genetic disease | |__autosomal recessive disease_____| progressive myoclonus epilepsy 8 |
| Spanning Tree View Settings | |||
|---|---|---|---|
| Parents/Children View Depth |
|||
Relationships
|
|||
| Is a |
autosomal recessive disease progressive myoclonus epilepsy |
||
| Part of | |||
|
Synonyms & Secondary IDs
|
|||
| Synonyms | |||
|
|||
| Secondary IDs | |||
|
|
|||
|
External Crossreferences & Linkouts
|
|||
|
MIM:616230 ORDO:424027 |
|||