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Human Disease

autosomal recessive chronic granulomatous disease 2

Term ID
DOID:0070191
Synonyms
  • autosomal recessive chronic granulomatous disease cytochrome b-positive type II
  • 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 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models