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DO Term : familial encephalopathy with neuroserpin inclusion bodies [DOID:0050831] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • GARD:10037,
  • 604218,
  • OMIM:604218,
  • FENIB,
  • MESH:C536841
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents