FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term T-cell immunodeficiency, congenital alopecia, and nail dystrophy ID (Ontology) DOID:0060769 (Human Disease)
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.
Also Known As "alymphoid cystic thymic dysgenesis" ; "severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome" ; "winged helix deficiency"
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 Genes
 T-cell immunodeficiency, congenital alopecia, and nail dystrophy       1
 for disease ribbon | T-cell immunodeficiency, congenital alopecia, and nail dystrophy       1
 model of | T-cell immunodeficiency, congenital alopecia, and nail dystrophy       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease_______
combined immunodeficiency             |
 |__severe combined immunodeficiency__|
disease                               |
 |__physical disorder_________________|
                                      T-cell immunodeficiency, congenital alopecia, and nail dystrophy  1 rec.
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Is a autosomal recessive disease
physical disorder
severe combined immunodeficiency
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Synonyms
  • "alymphoid cystic thymic dysgenesis" EXACT
    "severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome" EXACT
    "winged helix deficiency" EXACT
Secondary IDs
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ICD10CM:D82.8
MESH:C536781
MIM:601705
ORDO:169095