Search Ontology:
Human Disease
progressive myoclonus epilepsy 1B
- Term ID
- DOID:0111448
- Synonyms
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- EPM1B
- Definition
- An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PRICKLE1 gene on chromosome 12q12. https://www.ncbi.nlm.nih.gov/pubmed/18976727
- References
- Ontology
- Human Disease ( DOID:0111448 )
- is a type of
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