ZFIN Human Disease: familial encephalopathy with neuroserpin inclusion bodies

OBO ID: DOID:0050831

Term Name:	familial encephalopathy with neuroserpin inclusion bodies		Search Ontology:
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:	GARD:10037 MESH:C536841 OMIM:604218
Ontology:	Human Disease ( DOID:0050831 )

Relationships

is a type of:	autosomal dominant disease neurodegenerative disease autosomal dominant disease neurodegenerative disease Show first 5 Terms

OTHER familial encephalopathy with neuroserpin inclusion bodies PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SERPINI1	serpini1	Encephalopathy, familial, with neuroserpin inclusion bodies	604218

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None