familial encephalopathy with neuroserpin inclusion bodies

Summary

DOID:0050831 - familial encephalopathy with neuroserpin inclusion bodies

Disease Ontology 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.

Synonyms: FENIB

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: serpini1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011412 - familial encephalopathy with neuroserpin inclusion bodies

MONDO:0011412 - familial encephalopathy with neuroserpin inclusion bodies

MIM:

MIM:604218 - ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES; FENIB

MIM:604218 - ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES; FENIB

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), neurodegenerative disease (is_a)