FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term immunodeficiency 113 ID (Ontology) DOID:0051056 (Human Disease)
Definition A primary immunodeficiency disease that is characterized by recurrent infections and usually show features of autoimmunity and autoinflammation, such as hemolytic anemia, thrombocytopenia, hepatosplenomegaly, leukocytosis, neutrophilia, and elevated acute phase reactants, and that has_material_basis_in homozygous mutation in the ARPC5 gene on chromosome 1q25.
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 Genes
 immunodeficiency 113       1
 for disease ribbon | immunodeficiency 113       1
 model of | immunodeficiency 113       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease_______
immune system disease                 |
 |__primary immunodeficiency disease__|
                                      immunodeficiency 113  1 rec.
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Is a autosomal recessive disease
primary immunodeficiency disease
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MIM:620565