Term Name: | autosomal recessive chronic granulomatous disease 1 |
---|---|
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 |
Definition: | A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF1 gene on chromosome 7q11.23. |
Ontology: | Human Disease [DOID:0070192] ( DOID:0070192 ) |