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Human Disease

autosomal recessive chronic granulomatous disease 3

Term ID
DOID:0070194
Synonyms
  • autosomal recessive chronic granulomatous disease cytochrome b-positive type III
  • autosomal recessive cytochrome b-positive CGD type III
  • CDG3
  • 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. https://www.ncbi.nlm.nih.gov/pubmed/19692703
References
Ontology
Human Disease   ( DOID:0070194 )
Relationships
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Genes Involved
Zebrafish Models