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Metadata
DOID DOID:0050831
Name familial encephalopathy with neuroserpin inclusion bodies
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.
http://ghr.nlm.nih.gov/condition/familial-encephalopathy-with-neuroserpin-inclusion-bodies, http://www.jbc.org/content/277/19/17367, https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1238/viewFullReport
Xrefs

GARD:10037

MESH:C536841

OMIM:604218

Subsets

DO_FlyBase_slim

Synonyms

FENIB [EXACT]

Relationships

is_a neurodegenerative disease

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