autosomal recessive chronic granulomatous disease 1

Term ID

DOID:0070192

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. https://www.ncbi.nlm.nih.gov/pubmed/2770793

References

• OMIM:233700

Ontology

Human Disease   ( DOID:0070192 )