Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
autosomal recessive chronic granulomatous disease 3
Summary
- Synonym
-
- CDG3
- autosomal recessive chronic granulomatous disease cytochrome b-positive type III
- autosomal recessive cytochrome b-positive CGD type III
- 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.
- Super Class
- autosomal recessive disease chronic granulomatous disease
External Links
- Disease Ontology
- DOID:0070194
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q10469 | Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase |
