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 onset in infancy or early childhood of recurrent infections with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in CD3E on chromosome 11q23.3. (DO)
Synonyms:
exact_synonym:
CD3-epsilon deficiency; IMD18; immunodeficiency due to defect in CD3-Epsilon
related_synonym:
immunodeficiency 18, SCID variant; immunodeficiency 18, severe combined; immunodeficiency variant