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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


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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 CD163 CD163 molecule exacerbates IEP associated with Human Influenza;protein:increased expression:blood serum (human) RGD PMID:23149357 RGD:127345135 NCBI chr12:7,470,811...7,503,777
Ensembl chr12:7,470,811...7,503,893 		JBrowse link
G NUP214 nucleoporin 214 IAGP ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, susceptibility to, 9 ClinVar
OMIM		 PMID:25741868 PMID:25741913 PMID:30758658 PMID:31178128 NCBI chr 9:131,125,586...131,234,663
Ensembl chr 9:131,125,573...131,234,663 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        central nervous system disease 23468
          brain disease 21902
            ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 9 2
paths to the root