Preferred Label : Granulomatous disease, chronic, autosomal recessive, 2;
Symbol : CGD2;
CISMeF acronym : CDG2; CGD2;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Cgd, autosomal recessive cytochrome b-positive, type II; Granulomatous disease, chronic, due to ncf2 deficiency; Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II; Neutrophil cytosol factor 2 deficiency; Ncf2 deficiency; P67-phox deficiency;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the neutrophil cytosolic factor-2 gene, p67-phox (NCF2, 608515.0001);
Laboratory abnormalities : Presence of cytochrome b(-245); Negative nitroblue tetrazolium (NBT) reduction test; Deficiency or absence of p67-phox protein (type II); Decreased activity of NADPH oxidase;
Prefixed ID : #233710;
Origin ID : 233710;
UMLS CUI : C1856245;
Automatic exact mappings (from CISMeF team)
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UMLS correspondences (same concept)