OBO ID: DOID:0060769
Term Name: T-cell immunodeficiency, congenital alopecia, and nail dystrophy Search Ontology:
Synonyms:
  • alymphoid cystic thymic dysgenesis
  • severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome
  • winged helix deficiency
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. (3)
References:
Ontology: Human Disease   (DOID:0060769)
OTHER T-cell immunodeficiency, congenital alopecia, and nail dystrophy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FOXN1 T-cell immunodeficiency, congenital alopecia, and nail dystrophy 601705
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None