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autosomal recessive chronic granulomatous disease 1
Summary
- Synonym
-
- CDG1
- autosomal recessive chronic granulomatous disease cytochrome b-positive type I
- chronic granulomatous disease due to deficiency of NCF-1
- deficiency of NCF1
- deficiency of SOC2
- deficiency of neutrophil cytosol factor 1
- deficiency of p47-PHOX
- 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.
- Super Class
- autosomal recessive disease chronic granulomatous disease
External Links
- Disease Ontology
- DOID:0070192
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O15305 | Phosphomannomutase 2 |
