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.
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