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 severe combined immunodeficiency that is a X-linked SCID that has_material_basis_in mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells. (DO)
Synonyms:
exact_synonym:
IMD4; Immunodeficiency 4; SCID-X1; SCIDX; SCIDX1; Severe Combined Immunodeficiency, X-Linked, T Cell Negative, B Cell Positive, NK Cell Negative; X-SCID; X-linked SCID; X-linked severe combined immunodeficiency disease; XSCID; gamma chain deficiency; thymic epithelial hypoplasia