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ONTOLOGY REPORT - ANNOTATIONS


Term:familial encephalopathy with neuroserpin inclusion bodies
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Accession:DOID:0050831 term browser browse the term
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. (DO)
Synonyms:exact_synonym: FENIB;   familial dementia with neuroserpin inclusion bodies;   familial encephalopathy with Collins bodies
 primary_id: MESH:C536841
 alt_id: OMIM:604218;   RDO:0002543
 xref: GARD:10037
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familial encephalopathy with neuroserpin inclusion bodies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdcd10 programmed cell death 10 JBrowse link 2 173,966,701 174,012,730 RGD:8554872
G Serpinb7 serpin family B member 7 JBrowse link 13 27,282,456 27,354,775 RGD:7207386
G Serpini1 serpin family I member 1 JBrowse link 2 174,013,058 174,111,693 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          Nervous System Heredodegenerative Disorders 1718
            familial encephalopathy with neuroserpin inclusion bodies 3
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          brain disease 7561
            movement disease 1000
              Dyskinesias 710
                Myoclonus 90
                  Myoclonic Epilepsies 86
                    familial encephalopathy with neuroserpin inclusion bodies 3
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