FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term immunodeficiency 131 ID (Ontology) DOID:0061125 (Human Disease)
Definition A primary immunodeficiency disease that is characterized by low IgM, IgG, and IgA serum levels, low plasma cell counts, abnormal T-cell subsets, and early graying of hair that has_material_basis_in heterozygous or homozygous mutation in the IRF4 gene on chromosome 6p25.
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lower respiratory tract disease
 |__lung disease______________________
autosomal genetic disease             |
 |__autosomal dominant disease________|
immune system disease                 |
 |__primary immunodeficiency disease__|
                                      immunodeficiency 131
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Is a autosomal dominant disease
primary immunodeficiency disease
lung disease
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MIM:621097