OBO ID: DOID:0070191
Term Name: autosomal recessive chronic granulomatous disease cytochrome b-positive type II Search Ontology:
Synonyms:
  • autosomal recessive chronic granulomatous disease 2
  • CDG2
  • chronic granulomatous disease due to deficiency of NCF-2
  • deficiency of NCF2
  • deficiency of p67-PHOX
Definition: A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF2 gene on chromosome 1q25. https://www.ncbi.nlm.nih.gov/pubmed/7795241
References:
Ontology: Human Disease   (DOID:0070191)
OTHER autosomal recessive chronic granulomatous disease cytochrome b-positive type II PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NCF2 Chronic granulomatous disease 2, autosomal recessive 233710
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None