RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:
autosomal recessive chronic granulomatous disease cytochrome b-positive type II
A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF2 gene on chromosome 1q25. (DO)
Synonyms:
exact_synonym:
CDG2; CGD2; NCF2 deficiency; autosomal recessive CGD, cytochrome B-positive, type II; autosomal recessive chronic granulomatous disease 2; autosomal recessive chronic granulomatous disease, cytochrome B-positive, type 2; chronic granulomatous disease due to NCF2 deficiency; chronic granulomatous disease due to deficiency of NCF-2; deficiency of NCF2; deficiency of P67-Phox; deficiency of neutrophil cytosol factor 2; neutrophil cytosol factor 2 deficiency; p67-phox deficiency
ClinVar Annotator: match by OMIM:233710 ClinVar Annotator: match by term: p67-PHOX, DEFICIENCY OF ClinVar Annotator: match by term: Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2