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RGD DISEASE ONTOLOGY - ANNOTATIONS

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
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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
 xref: GARD:10037



show annotations for term's descendants           Sort by:
familial encephalopathy with neuroserpin inclusion bodies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdcd10 programmed cell death 10 ISO ClinVar Annotator: match by term: Familial encephalopathy with neuroserpin inclusion bodies ClinVar PMID:28492532 NCBI chr 2:160,303,465...160,346,086
Ensembl chr 2:160,303,449...160,346,018
JBrowse link
G Serpinb7 serpin family B member 7 ISO RGD PMID:16782060 RGD:7207386 NCBI chr13:23,369,830...23,442,205
Ensembl chr13:23,395,671...23,442,205
JBrowse link
G Serpini1 serpin family I member 1 ISO
ISS
ClinVar Annotator: match by term: Familial encephalopathy with neuroserpin inclusion bodies
CTD Direct Evidence: marker/mechanism
OMIM:604218
OMIM
ClinVar
CTD
MouseDO
PMID:9536098 PMID:11138927 PMID:11880376 PMID:12103288 PMID:15090543 More... NCBI chr 2:160,346,403...160,433,135
Ensembl chr 2:160,346,758...160,433,135
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21147
    Developmental Disease 18462
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18323
        genetic disease 18267
          Nervous System Heredodegenerative Disorders 3229
            familial encephalopathy with neuroserpin inclusion bodies 3
Path 2
Term Annotations click to browse term
  disease 21147
    disease of anatomical entity 18195
      nervous system disease 14024
        central nervous system disease 12380
          brain disease 11617
            movement disease 2574
              Dyskinesias 2188
                Myoclonus 378
                  Myoclonic Epilepsies 371
                    familial encephalopathy with neuroserpin inclusion bodies 3
paths to the root