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 T cell deficiency that results from the disfunction or underdevelopment of the thymus. (DO)
Synonyms:
exact_synonym:
Nezelof's syndrome; T-cell immunodeficiency with thymic aplasia; TIDTA; immune defect due to absence of thymus; thymic aplasia; thymic dysplasia with normal immunoglobulins