FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term immunodeficiency 82 ID (Ontology) DOID:0061053 (Human Disease)
Definition A primary immunodeficiency disease that is characterized by recurrent infections with various organisms, as well as noninfectious inflammation manifest as lymphocytic organ infiltration with gastritis, colitis, and lung, liver, CNS, or skin disease and and that has_material_basis_in heterozygous mutation in the SYK gene on chromosome 9q22.
Also Known As "immunodeficiency 82 with systemic inflammation"
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 Genes
 immunodeficiency 82       1
 for disease ribbon | immunodeficiency 82       1
 model of | immunodeficiency 82       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease________
immune system disease                 |
 |__primary immunodeficiency disease__|
                                      immunodeficiency 82  1 rec.
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Is a autosomal dominant disease
primary immunodeficiency disease
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Synonyms
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Secondary IDs
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MIM:619381