FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term autosomal recessive chronic granulomatous disease 4 ID (Ontology) DOID:0070193 (Human Disease)
Definition A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CYBA gene on chromosome 16q24.2.
Also Known As "autosomal recessive chronic granulomatous disease cytochrome b-negative" ; "autosomal recessive cytochrome b-negative CGD" ; "CGD due to deficiency of the alpha subunit of cytochrome b" (for all, see Synonyms field below)
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autosomal genetic disease
 |__autosomal recessive disease_____
phagocyte bactericidal dysfunction  |
 |__chronic granulomatous disease___|
                                    autosomal recessive chronic granulomatous disease 4
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Is a autosomal recessive disease
chronic granulomatous disease
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Synonyms
  • "autosomal recessive chronic granulomatous disease cytochrome b-negative" EXACT
    "autosomal recessive cytochrome b-negative CGD" EXACT
    "CGD due to deficiency of the alpha subunit of cytochrome b" EXACT
    "chronic granulomatous disease due to deficiency of CYBA" EXACT
    "CYBA deficiency" EXACT
Secondary IDs
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MIM:233690