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DO Term : T-cell immunodeficiency, congenital alopecia, and nail dystrophy [DOID:0060769] Disease Ontology

Namespace  disease_ontology Obsolete  false
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.
  • synonyms:
  • OMIM:601705,
  • ICD10CM:D82.8,
  • MESH:C536781,
  • severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome,
  • winged helix deficiency,
  • 601705,
  • alymphoid cystic thymic dysgenesis,
  • ORDO:169095
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