Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.



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 ClinVar Annotator: match by term: Familial encephalopathy with neuroserpin inclusion bodies OMIM
ClinVar
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 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          Nervous System Heredodegenerative Disorders 2365
            familial encephalopathy with neuroserpin inclusion bodies 3
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        central nervous system disease 11253
          brain disease 10538
            movement disease 1690
              Dyskinesias 1344
                Myoclonus 127
                  Myoclonic Epilepsies 122
                    familial encephalopathy with neuroserpin inclusion bodies 3
paths to the root