Visualize Submit Comment

Metadata
ID	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 MIM:604218
Subsets	DO_FlyBase_slim DO_rare_slim
Synonyms	FENIB [EXACT]
Parent Relationships	is_a neurodegenerative disease is_a autosomal dominant disease