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familial encephalopathy with neuroserpin inclusion bodies

http://purl.obolibrary.org/obo/DOID_0050831

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://purl.obolibrary.org/obo/ECO_0007637 http://purl.obolibrary.org/obo/ECO_0007636 ]

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Term info

Label

familial encephalopathy with neuroserpin inclusion bodies

Synonyms

FENIB

database cross reference

Subsets

DO_FlyBase_slim

created by

lschriml

creation date

2014-02-24T10:14:57Z

has obo namespace

disease_ontology

DOID:0050831

Term relations

Subclass of:

autosomal dominant disease
neurodegenerative disease
has material basis in some autosomal dominant inheritance