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Summary Literature (0)
DOID:0060769 - T-cell immunodeficiency, congenital alopecia, and nail dystrophy


Disease Ontology 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, winged helix deficiency

Xenbase Genes : foxn1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011132 - T-cell immunodeficiency, congenital alopecia, and nail dystrophy

OMIM:
OMIM:601705 - T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY; TIDAND

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), physical disorder (is_a), severe combined immunodeficiency (is_a)