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.
A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial infection after BCG vaccination and impaired cellular responses to IL-12, IFN-alpha/beta, IL-23, and IL-10 that has_material_basis_in homozygous or compound heterozygous mutation in TYK2 on chromosome 19p13.2. (DO)
Synonyms:
exact_synonym:
Hyper-IgE Syndrome with Atypical Mycobacteriosis, Autosomal Recessive; IMD35; TYK2 Deficiency; autosomal recessiv HIES with atypical mycobacteriosis; autosomal recessive HIES with atypical mycobacteriosis; susceptibility to infection due to TYK2 deficiency; tyrosine kinase 2 deficiency