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Disease Ontology Browser
progressive myoclonus epilepsy 4 (DOID:0111444)
Alliance: disease page
Synonyms: action myoclonus-renal failure syndrome; AMRF; EPM4; Myoclonus-nephropathy syndrome
Alt IDs: OMIM:254900, MESH:D020191, ORDO:163696, UMLS_CUI:C0751779
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.

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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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory