| Metadata | |
|---|---|
| ID | DOID:0060769 |
| Name | T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
| Definition | 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. https://ghr.nlm.nih.gov/condition/t-cell-immunodeficiency-congenital-alopecia-and-nail-dystrophy, https://www.ncbi.nlm.nih.gov/pubmed/10206641, https://www.ncbi.nlm.nih.gov/pubmed/8911612 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
alymphoid cystic thymic dysgenesis [EXACT] severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome [EXACT] winged helix deficiency [EXACT] |
| Parent Relationships |
is_a severe combined immunodeficiency is_a autosomal recessive disease is_a physical disorder |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth |