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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:Immunodeficiency 83
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Accession:DOID:9009130 term browser browse the term
Definition:Characterized primarily by increased susceptibility to viral infections. Caused by homozygous, compound heterozygous, or heterozygous mutation in the TLR3 gene on chromosome 4q35. (OMIM)
Synonyms:exact_synonym: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 2;   HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 2;   IIAE2;   IMD83;   Immunodeficiency 83, susceptibility to viral infections;   PNEUMONITIS, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO
 primary_id: OMIM:613002
For additional species annotation, visit the Alliance of Genome Resources.



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Immunodeficiency 83 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tlr3 toll-like receptor 3 susceptibility ISO ClinVar Annotator: match by term: Herpes simplex encephalitis, susceptibility to, 2 | ClinVar Annotator: match by term: IMMUNODEFICIENCY 83, SUSCEPTIBILITY TO VIRAL INFECTIONS OMIM
ClinVar
PMID:17872438 PMID:19625408 PMID:20472559 PMID:20855885 PMID:21911422 More... NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    syndrome 9691
      primary immunodeficiency disease 3832
        Immunodeficiency 83 1
Path 2
Term Annotations click to browse term
  disease 18145
    disease of anatomical entity 17519
      nervous system disease 13182
        central nervous system disease 11306
          brain disease 10593
            encephalitis 156
              Infectious Encephalitis 134
                viral encephalitis 134
                  Herpes Simplex Encephalitis 101
                    Immunodeficiency 83 1
paths to the root