1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0060769 | 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. |
1 Parent Term
Identifier | Name | Description |
---|---|---|
DOID:0050177 | monogenic disease | A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive. |