About: familial encephalopathy with neuroserpin inclusion bodies

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About: familial encephalopathy with neuroserpin inclusion bodies Goto Sponge NotDistinct Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	autosomal dominant disease neurodegenerative disease nodeID://b50937681
label	familial encephalopathy with neuroserpin inclusion bodies
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0050831
created_by	lschriml
creation_date	2014-02-24T10:14:57Z
database_cross_reference	GARD:10037 MESH:C536841 OMIM:604218
has_exact_synonym	FENIB (en)
has_obo_namespace	disease_ontology
in_subset	DO_FlyBase_slim
http://purl.obolib...g/obo/IAO_0000115	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.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50937682

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