FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term immunodeficiency 120 ID (Ontology) DOID:0061086 (Human Disease)
Definition A combined T cell and B cell immunodeficiency that is characterized by the onset of recurrent upper and lower respiratory tract infections in early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the POLD1 gene on chromosome 19q13.
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 Genes
 immunodeficiency 120       1
 for disease ribbon | immunodeficiency 120       1
 model of | immunodeficiency 120       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__________________
combined immunodeficiency                        |
 |__combined T cell and B cell immunodeficiency__|
                                                 immunodeficiency 120  1 rec.
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Is a autosomal recessive disease
combined T cell and B cell immunodeficiency
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MIM:620836