FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term immunodeficiency 15A ID (Ontology) DOID:0111960 (Human Disease)
Definition A combined T cell and B cell immunodeficiency characterized by immune dysregulation, combined T and B cell deficiency, inflammation, and epithelial defects that has_material_basis_in heterozygous missense mutation in the IKBKB gene on chromosome 8p11.21.
Also Known As "IMD15A"
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 Genes
 immunodeficiency 15A       1
 for disease ribbon | immunodeficiency 15A       1
 model of | immunodeficiency 15A       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease___________________
combined immunodeficiency                        |
 |__combined T cell and B cell immunodeficiency__|
                                                 immunodeficiency 15A  1 rec.
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Is a autosomal dominant disease
combined T cell and B cell immunodeficiency
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Synonyms
  • "IMD15A" EXACT OMO:0003012
Secondary IDs
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MIM:618204
UMLS_CUI:C4748694