Search Ontology:
Human Disease

progressive myoclonus epilepsy 1B

Term ID
DOID:0111448
Synonyms
  • 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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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