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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;   RDO:0002543
 xref: GARD:10037
For additional species annotation, visit the Alliance of Genome Resources.


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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: Encephalopathy, familial, with neuroserpin inclusion bodies ClinVar PMID:28492532 NCBI chr 2:173,966,701...174,012,730
Ensembl chr 2:173,967,080...174,012,676
JBrowse link
G Serpinb7 serpin family B member 7 ISO RGD PMID:16782060 RGD:7207386 NCBI chr13:27,282,456...27,354,775
Ensembl chr13:27,312,498...27,354,052
JBrowse link
G Serpini1 serpin family I member 1 ISO ClinVar Annotator: match by term: Encephalopathy, familial, with neuroserpin inclusion bodies
ClinVar Annotator: match by term: Familial encephalopathy with neuroserpin inclusion bodies
ClinVar Annotator: match by OMIM:604218
OMIM
ClinVar
PMID:11138927 PMID:11880376 PMID:12103288 PMID:15090543 PMID:18591508 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:174,013,058...174,111,693
Ensembl chr 2:174,013,288...174,111,752
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16158
    Developmental Disease 9628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8455
        genetic disease 7972
          Nervous System Heredodegenerative Disorders 1917
            familial encephalopathy with neuroserpin inclusion bodies 3
Path 2
Term Annotations click to browse term
  disease 16158
    disease of anatomical entity 15408
      nervous system disease 11007
        central nervous system disease 9126
          brain disease 8438
            movement disease 1100
              Dyskinesias 797
                Myoclonus 85
                  Myoclonic Epilepsies 80
                    familial encephalopathy with neuroserpin inclusion bodies 3
paths to the root