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.
Term:
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has_material_basis_in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12. (DO)
Synonyms:
exact_synonym:
Pignata Guarino syndrome; alymphoid cystic thymic dysgenesis; congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency; severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome; winged helix deficiency