OBO ID: DOID:0070192
Term Name: autosomal recessive chronic granulomatous disease 1 Search Ontology:
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 )
OTHER autosomal recessive chronic granulomatous disease 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NCF1 Chronic granulomatous disease 1, autosomal recessive 233700
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None