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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


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Immunodeficiency 83 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tlr3 toll-like receptor 3 ISO ClinVar Annotator: match by term: Immunodeficiency 83, susceptibility to viral infections ClinVar
OMIM		 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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      primary immunodeficiency disease 4146
        Immunodeficiency 83 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        Neurologic Manifestations 10039
          sensory system disease 6940
            skin disease 3960
              Infectious Skin Diseases 265
                Viral Skin Diseases 134
                  herpes simplex 92
                    Herpes Simplex Encephalitis 54
                      Immunodeficiency 83 1
paths to the root