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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, SUSCEPTIBILITY TO, 3
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Accession:DOID:9003471 term browser browse the term
Synonyms:exact_synonym: ANE;   ENCEPHALOPATHY, ACUTE NECROTIZING, SUSCEPTIBILITY TO;   ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUCEPTIBILITY TO;   ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3;   IIAE3
 primary_id: OMIM:608033;   RDO:0009159
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc138 coiled-coil domain containing 138 ISO ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, 3, suceptibility to ClinVar PMID:28492532 NCBI chr20:28,076,784...28,158,053
Ensembl chr20:28,078,500...28,157,071
JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, 3, suceptibility to ClinVar PMID:28492532 NCBI chr20:28,179,132...28,263,092
Ensembl chr20:28,179,140...28,263,037
JBrowse link
G Ranbp2 RAN binding protein 2 susceptibility ISO ClinVar Annotator: match by OMIM:608033
ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, 3, suceptibility to
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.T585M (human)
ClinVar Annotator: match by term: ENCEPHALOPATHY, ACUTE NECROTIZING, SUSCEPTIBILITY TO
ClinVar
CTD
OMIM
PMID:2759111, PMID:19118815, PMID:19811512, PMID:20473521, PMID:21205700, PMID:21945312, PMID:25128471, PMID:25522933, PMID:25741868, PMID:26110162, PMID:26923722, PMID:27591117, PMID:28336122, PMID:28492532, PMID:19118815 RGD:9835035 NCBI chr20:28,027,054...28,076,664
NCBI chr20:28,365,538...28,375,676
Ensembl chr20:28,027,054...28,076,664
Ensembl chr20:28,027,054...28,076,664
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.