autosomal recessive chronic granulomatous disease 2

Term ID

DOID:0070191

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. https://www.ncbi.nlm.nih.gov/pubmed/7795241

References

• MIM:233710

Ontology

Human Disease   ( DOID:0070191 )