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GENATLAS PHENOTYPE
last update : 30-08-2010
Symbol NCF1D
Location 7q11.23
Name granulomatous disease, chronic, cytochrome b-positive, type I
Other name(s)
  • chronic granulomatous disease, common form
  • Corresponding gene NCF1
    Main clinical features impetiginous skin lesions, repeated infections
    Genetic determination autosomal recessive
    Prevalence 1 in 250,000 individuals
    Function/system disorder hematology
    Type disease
    Gene product
    Name neutrophil cytosolic factor 1 (47kD component of NADPH oxidase system), p47-phox (NCF1)
    Remark(s)