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 1 ID (Ontology) DOID:0070192 (Human Disease)
Definition A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF1 gene on chromosome 7q11.23.
Also Known As "autosomal recessive chronic granulomatous disease cytochrome b-positive type I" ; "CDG1" ; "chronic granulomatous disease due to deficiency of NCF-1" (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 1
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Is a autosomal recessive disease
chronic granulomatous disease
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Synonyms
  • "autosomal recessive chronic granulomatous disease cytochrome b-positive type I" EXACT
    "CDG1" EXACT OMO:0003012
    "chronic granulomatous disease due to deficiency of NCF-1" EXACT
    "deficiency of NCF1" EXACT
    "deficiency of neutrophil cytosol factor 1" EXACT
    "deficiency of p47-PHOX" EXACT
    "deficiency of SOC2" EXACT
    "deficiency of soluble oxidase component II" EXACT
Secondary IDs
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MIM:233700