FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term immunodeficiency 128 ID (Ontology) DOID:0061093 (Human Disease)
Definition A T cell, B cell, and NK cell deficiency that is characterized by the onset of recurrent bacterial and viral infections in the first year of life and that has_material_basis_in homozygous mutation in the COPG1 gene on chromosome 3q21.
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 Genes
 immunodeficiency 128       1
 for disease ribbon | immunodeficiency 128       1
 model of | immunodeficiency 128       1
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autosomal genetic disease
 |__autosomal recessive disease_____________
combined immunodeficiency                   |
 |__T cell, B cell, and NK cell deficiency__|
                                            immunodeficiency 128  1 rec.
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Is a autosomal recessive disease
T cell, B cell, and NK cell deficiency
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MIM:620983