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
Accession: DOID:9003471
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: MIM:608033
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Bend4
BEN domain containing 4
ISO
ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, 3, suceptibility to
ClinVar
PMID:35221871
NCBI chr14:40,753,048...40,788,686
Ensembl chr14:40,753,077...40,783,504
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Ccdc138
coiled-coil domain containing 138
ISO
ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, 3, suceptibility to
ClinVar
PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 PMID:28981473 More...
NCBI chr20:26,493,624...26,572,367
Ensembl chr20:26,495,235...26,572,376
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Edar
ectodysplasin-A receptor
ISO
ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, 3, suceptibility to
ClinVar
PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 PMID:28981473 More...
NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494
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Gcc2
GRIP and coiled-coil domain containing 2
ISO
ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, 3, suceptibility to
ClinVar
PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 PMID:28981473 More...
NCBI chr20:26,247,394...26,293,613
Ensembl chr20:26,247,404...26,293,613
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Lims1
LIM zinc finger domain containing 1
ISO
ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, 3, suceptibility to
ClinVar
PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 PMID:28981473 More...
NCBI chr20:26,309,833...26,418,511
Ensembl chr20:26,309,895...26,418,500
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Ranbp2
RAN binding protein 2
susceptibility
ISO
DNA:missense mutation:cds:p.T585M (human) ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, 3, suceptibility to
ClinVar OMIM RGD
PMID:2759111 PMID:9536098 PMID:10431241 PMID:10431242 PMID:17576681 PMID:18854857 PMID:19118815 PMID:19811512 PMID:20473521 PMID:20979233 PMID:21205700 PMID:21945312 PMID:22030434 PMID:25128471 PMID:25522933 PMID:25640679 PMID:25741868 PMID:26110162 PMID:26923722 PMID:27591117 PMID:28166811 PMID:28336122 PMID:28492532 PMID:28981473 PMID:29593631 PMID:30796099 PMID:32760653 PMID:34400285 PMID:19118815 More...
RGD:9835035
NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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Rnh1
ribonuclease/angiogenin inhibitor 1
ISO
ClinVar Annotator: match by term: ENCEPHALOPATHY, ACUTE NECROTIZING, SUSCEPTIBILITY TO
ClinVar
PMID:25741868 PMID:36935417 PMID:37191094
NCBI chr 1:196,269,293...196,281,763
Ensembl chr 1:196,269,293...196,281,910
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Slc5a7
solute carrier family 5 member 7
ISO
ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, 3, suceptibility to
ClinVar
PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 PMID:28981473 More...
NCBI chr 9:7,595,440...7,626,258
Ensembl chr 9:7,595,444...7,626,258
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Sult1c2a
sulfotransferase family 1C member 2A
ISO
ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, 3, suceptibility to
ClinVar
PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 PMID:28981473 More...
NCBI chr 9:6,873,697...6,904,736
Ensembl chr 9:6,874,249...6,904,734
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Sult1c3
sulfotransferase family 1C member 3
ISO
ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, 3, suceptibility to
ClinVar
PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 PMID:28981473 More...
NCBI chr 9:7,221,580...7,266,991
Ensembl chr 9:7,221,578...7,267,030
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all