Disease

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.

Synonyms

alymphoid cystic thymic dysgenesis
severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome

Cross References

Parent Terms

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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