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granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3

Disease Summary
Associated Targets (1)
Tbio

1


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.
Disease Ontology Description A chronic granulomatous disease characterized by that autosomal recessive inheritance has_material_basis_in mutation in the NCF4 gene on chromosome 22q12.
Mondo Term and Equivalent IDs
MONDO:0013507:  granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
UMLS:C3151409: