Term Name: | autosomal recessive chronic granulomatous disease 3 |
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Synonyms: | autosomal recessive chronic granulomatous disease cytochrome b-positive type III, autosomal recessive cytochrome b-positive CGD type III, CDG3, chronic granulomatous disease due to NCF4 deficiency |
Definition: | A chronic granulomatous disease characterized by that autosomal recessive inheritance has_material_basis_in mutation in the NCF4 gene on chromosome 22q12. |
Ontology: | Human Disease [DOID:0070194] ( DOID:0070194 ) |