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
Displaying 1 entry
Gene ID Gene Symbol Description Source
4247 MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
Related Glycoprotein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024