progressive myoclonus epilepsy 4

Summary

DOID:0111444 - progressive myoclonus epilepsy 4

Disease Ontology Definition:A progressive myoclonus epilepsy characterized by progressive myoclonic epilepsy often associated with renal failure that has_material_basis_in homozygous or compound heterozygous of mutation in the SCARB2 gene on chromosome 4q21.1.

Synonyms: AMRF, EPM4, Myoclonus-nephropathy syndrome, action myoclonus-renal failure syndrome,

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

: scarb2

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

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

Parent(s): autosomal recessive disease (is_a), progressive myoclonus epilepsy (is_a)