FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term immunodeficiency 97 ID (Ontology) DOID:0061067 (Human Disease)
Definition A T cell and NK cell immunodeficiency that is characterized by variable features and and that has_material_basis_in compound heterozygous mutation in the PIK3CG gene on chromosome 7q22.
Also Known As "immunodeficiency 97 with autoinflammation"
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 Genes
 immunodeficiency 97       1
 for disease ribbon | immunodeficiency 97       1
 model of | immunodeficiency 97       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__________
primary immunodeficiency disease         |
 |__T cell and NK cell immunodeficiency__|
                                         immunodeficiency 97  1 rec.
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Is a autosomal recessive disease
T cell and NK cell immunodeficiency
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Synonyms
  • "immunodeficiency 97 with autoinflammation" EXACT
Secondary IDs
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MIM:619802