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Disease Ontology Browser
progressive myoclonus epilepsy 1B (DOID:0111448)
Alliance: disease page
Synonyms: EPM1B
Alt IDs: OMIM:612437
Definition: An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous mutation in PRICKLE1 on chromosome 12q12.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
11/10/2020
MGI 6.16
The Jackson Laboratory