Search Ontology:
Human Disease

progressive myoclonus epilepsy 4

Term ID
DOID:0111444
Synonyms
  • action myoclonus-renal failure syndrome
  • AMRF
  • EPM4
  • Myoclonus-nephropathy syndrome
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. (2)
References
Ontology
Human Disease   ( DOID:0111444 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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