progressive myoclonus epilepsy 1B

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Summary

Literature (0)

DOID:0111448 - progressive myoclonus epilepsy 1B

Disease Ontology Definition:An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PRICKLE1 gene on chromosome 12q12.

Synonyms: EPM1B

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: prickle1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), Unverricht-Lundborg syndrome (is_a)