T-cell immunodeficiency, congenital alopecia, and nail dystrophy

Summary

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: foxn1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011132 - intercarpal joint

MONDO:0011132 - intercarpal joint

MIM:

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

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

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view

Parent(s): autosomal recessive disease (is_a), physical disorder (is_a), severe combined immunodeficiency (is_a)