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Metadata
DOID 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
Synonyms

alymphoid cystic thymic dysgenesis [EXACT]

severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome [EXACT]

winged helix deficiency [EXACT]

Xrefs

ICD10CM:D82.8

OMIM:601705

ORDO:169095

Relationships

is_a severe combined immunodeficiency

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