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granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF2 gene.
Uniprot Description A disorder characterized by the inability of neutrophils and phagocytes to kill microbes that they have ingested. Patients suffer from life-threatening bacterial/fungal infections.
Mondo Term and Equivalent IDs
MONDO:0009310:  granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
DOID:0070191: autosomal recessive chronic granulomatous disease cytochrome b-positive type II
MESH:C565531: 
OMIM:233710: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II
UMLS:C1856245: