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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:ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 9
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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
For additional species annotation, visit the Alliance of Genome Resources.


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ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup214 nucleoporin 214 susceptibility ISO ClinVar Annotator: match by term: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9
ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, susceptibility to, 9
OMIM
ClinVar
PMID:25741868 PMID:30758658 PMID:31178128 NCBI chrNW_004955513:955,639...1,038,912 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12762
    disease of anatomical entity 12446
      nervous system disease 10344
        central nervous system disease 9060
          brain disease 8506
            ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 9 1
paths to the root