FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term immunodeficiency 62 ID (Ontology) DOID:0111991 (Human Disease)
Definition A B cell deficiency characterized by onset late in the first decade of life of recurrent upper and lower respiratory infections, impaired antibody response to vaccination, low levels of circulating memory B cells, and almost undetectable antibodies that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGEF1 gene on chromosome 19q13.2.
Also Known As "IMD62"
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 Genes
 immunodeficiency 62       1
 for disease ribbon | immunodeficiency 62       1
 model of | immunodeficiency 62       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease___
primary immunodeficiency disease  |
 |__B cell deficiency_____________|
                                  immunodeficiency 62  1 rec.
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Is a autosomal recessive disease
B cell deficiency
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Synonyms
  • "IMD62" EXACT OMO:0003012
Secondary IDs
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MIM:618459
UMLS_CUI:C5193109