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T-cell immunodeficiency, congenital alopecia, and nail dystrophy

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description 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.
Uniprot Description A disorder characterized by the association of congenital alopecia, severe T-cell immunodeficiency, and ridging and pitting of all nails.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0011132:  T-cell immunodeficiency, congenital alopecia, and nail dystrophy
GARD:0004358: 
MESH:C536781: 
Orphanet:169095: 
SCTID:720345008: 
UMLS:C1866426: