RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:
familial encephalopathy with neuroserpin inclusion bodies
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. (DO)
Synonyms:
exact_synonym:
FENIB; familial dementia with neuroserpin inclusion bodies; familial encephalopathy with Collins bodies
ClinVar Annotator: match by term: Encephalopathy, familial, with Collins bodies | ClinVar Annotator: match by term: Familial encephalopathy with neuroserpin inclusion bodies
CTD Direct Evidence: marker/mechanism OMIM:604218 ClinVar Annotator: match by term: Encephalopathy, familial, with Collins bodies | ClinVar Annotator: match by term: Familial encephalopathy with neuroserpin inclusion bodies