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:ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 9
go back to main search page
Accession:DOID:9002011 term browser browse the term
Definition:An autosomal recessive disorder characterized by episodic acute neurodegeneration and developmental regression associated with infections and febrile illness.
Synonyms:related_synonym: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9;   IIAE9
 primary_id: OMIM:618426



show annotations for term's descendants           Sort by:
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd163 CD163 molecule exacerbates ISO associated with Human Influenza;protein:increased expression:blood serum (human) RGD PMID:23149357 RGD:127345135 NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
JBrowse link
G Nup214 nucleoporin 214 susceptibility ISO ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, susceptibility to, 9 ClinVar
OMIM
PMID:25741868 PMID:30758658 PMID:31178128 NCBI chr 3:15,255,111...15,340,568
Ensembl chr 3:15,255,119...15,340,568
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21155
    disease of anatomical entity 18219
      nervous system disease 14053
        central nervous system disease 12385
          brain disease 11623
            ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 9 2
paths to the root