has material basis in germline mutation in SERPINI1 familial encephalopathy with neuroserpin inclusion bodies https://github.com/monarch-initiative/mondo/issues/5671 https://rarediseases.info.nih.gov/diseases/10037/familial-encephalopathy-with-neuroserpin-inclusion-bodies https://www.malacards.org/card/encephalopathy_familial_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. icd11.foundation:453919434 ICD9:348.39 NORD:1123 MESH:C536841 encephalopathy, familial, with neuroserpin inclusion bodies SCTID:702421006 DOID:0050831 Orphanet:85110 OMIM:604218 UMLS:C1858680 MONDO:0011412 GARD:0010037 MEDGEN:346965 FENIB progressive myoclonus epilepsy Mendelian encephalopathy