FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term immunodeficiency 34 ID (Ontology) DOID:0112000 (Human Disease)
Definition A phagocyte bactericidal dysfunction characterized by impaired respiratory burst in all types of phagocytes and increased susceptibility to infection by poorly virulent mycobacteria that has_material_basis_in hemizygous mutation in the CYBB gene on chromosome Xp21.1-p11.4.
Also Known As "AMCBX2" ; "familial atypical mycobacteriosis X-linked 2" ; "IMD34" (for all, see Synonyms field below)
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 Genes
 immunodeficiency 34       1
 for disease ribbon | immunodeficiency 34       1
 model of | immunodeficiency 34       1
Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__X-linked recessive disease__________
primary immunodeficiency disease        |
 |__phagocyte bactericidal dysfunction__|
                                        immunodeficiency 34  1 rec.
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Is a X-linked recessive disease
phagocyte bactericidal dysfunction
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Synonyms
  • "AMCBX2" EXACT OMO:0003012
    "familial atypical mycobacteriosis X-linked 2" EXACT
    "IMD34" EXACT OMO:0003012
    "immunodeficiency 34, mycobacteriosis, X-linked" EXACT
    "X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency" EXACT
    "X-linked MSMD due to CYBB deficiency" EXACT
Secondary IDs
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MESH:C567068
MIM:300645
UMLS_CUI:C1970859