Details of Disease

General Information of Disease (ID: DISMS4O6)

• Disease Name: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
• Synonyms: granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type II; CGD, autosomal recessive cytochrome B-positive, type 2; granulomatous disease, chronic, due to Ncf2 deficiency; Ncf2, deficiency of; P67-PHOX, deficiency of; neutrophil cytosol Factor 2, deficiency of; CDG2; chronic granulomatous disease caused by mutation in NCF2; chronic granulomatous disease 2, autosomal recessive; NCF2 chronic granulomatous disease; granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
• Definition: Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF2 gene.
• Disease Hierarchy:
  DIS9ZR24: Chronic granulomatous disease
  DISMS4O6: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
• Disease Identifiers:
  MONDO ID: MONDO_0009310
  MESH ID: C565531
  UMLS CUI: C1856245
  OMIM ID: 233710
  MedGen ID: 383869

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SMG7	OTZDB0JX	Limited	Genetic Variation	[1]
NCF2	OTAUW7L2	Definitive	Autosomal recessive	[2]

References

• [1] Two CGD Families with a Hypomorphic Mutation in the Activation Domain of p67(phox).J Clin Cell Immunol. 2014 Jun 30;5(3):1000231.
• [2] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.