Metadata | |
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ID | DOID:0050831 |
Name | familial encephalopathy with neuroserpin inclusion bodies |
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. http://www.jbc.org/content/277/19/17367, http://ghr.nlm.nih.gov/condition/familial-encephalopathy-with-neuroserpin-inclusion-bodies, https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1238/viewFullReport |
Xrefs | |
Subsets |
DO_FlyBase_slim DO_rare_slim |
Synonyms |
FENIB [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |