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Metadata
ID DOID:0070192
Name autosomal recessive chronic granulomatous disease 1
Definition A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF1 gene on chromosome 7q11.23.
https://www.ncbi.nlm.nih.gov/pubmed/2770793
Xrefs

MIM:233700

Synonyms

autosomal recessive chronic granulomatous disease cytochrome b-positive type I [EXACT]

CDG1 [EXACT]

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]

Parent Relationships

is_a chronic granulomatous disease

is_a autosomal recessive disease

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