Term Name: | autosomal recessive chronic granulomatous disease 2 |
---|---|
Synonyms: | autosomal recessive chronic granulomatous disease cytochrome b-positive type II, CDG2, chronic granulomatous disease due to deficiency of NCF-2, deficiency of NCF2, deficiency of p67-PHOX |
Definition: | A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF2 gene on chromosome 1q25. |
Ontology: | Human Disease [DOID:0070191] ( DOID:0070191 ) |