Search Ontology:
Human Disease

familial encephalopathy with neuroserpin inclusion bodies

Term ID
DOID:0050831
Synonyms
  • FENIB
Definition
A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern. (3)
References
Ontology
Human Disease   ( DOID:0050831 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models