Statements (16)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
gptkb:Unverricht-Lundborg_disease
|
| gptkbp:firstDescribed |
1891
|
| gptkbp:fullName |
gptkb:Epilepsy,_progressive_myoclonus_type_1
|
| https://www.w3.org/2000/01/rdf-schema#label |
EPM1
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:locatedOn |
chromosome 21
|
| gptkbp:mutationAssociatedWith |
gptkb:CSTB_gene
|
| gptkbp:namedAfter |
gptkb:Heinrich_Unverricht
gptkb:Herman_Lundborg |
| gptkbp:OMIM |
254800
|
| gptkbp:symptom |
epilepsy
ataxia myoclonus |
| gptkbp:bfsParent |
gptkb:Lundborg_disease
|
| gptkbp:bfsLayer |
7
|