autosomal recessive chronic granulomatous disease 1 (DOID:0070192)
Alliance: disease page
Synonyms: autosomal recessive chronic granulomatous disease cytochrome b-positive type I; CDG1; chronic granulomatous disease due to deficiency of NCF-1; deficiency of NCF1; deficiency of neutrophil cytosol factor 1; deficiency of p47-PHOX; deficiency of SOC2; deficiency of soluble oxidase component II
Alt IDs: OMIM:233700
Definition: A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF1 gene on chromosome 7q11.23.