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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, 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 SCARB2 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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last database update
02/11/2020
MGI 6.14
The Jackson Laboratory