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Human Disease

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
Ontology
Human Disease   ( DOID:0070192 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models