FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term immunodeficiency 70 ID (Ontology) DOID:0112005 (Human Disease)
Definition A combined T cell and B cell immunodeficiency characterized by decreased CD4+ T cells, decreased CD19+ B cells, recurrent bacterial infections, and severe cutaneous warts on the hands, feet, and face that has_material_basis_in heterozygous mutation in the IVNS1ABP gene on chromosome 1q25.3.
Also Known As "IMD70"
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 Genes
 immunodeficiency 70       6
 for disease ribbon | immunodeficiency 70       6
 model of | immunodeficiency 70       6
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease___________________
combined immunodeficiency                        |
 |__combined T cell and B cell immunodeficiency__|
                                                 immunodeficiency 70  6 rec.
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Is a autosomal dominant disease
combined T cell and B cell immunodeficiency
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Synonyms
  • "IMD70" EXACT OMO:0003012
Secondary IDs
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MIM:618969