Details of Disease | DrugMAP

General Information of Disease (ID: DIS3QSS3)

Disease Name	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
Synonyms	Cyba deficiency; CGD, autosomal recessive cytochrome B-negative; CGD due to deficiency of the Alpha Subunit of cytochrome B; chronic granulomatous disease 4, autosomal recessive; granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
Disease Hierarchy	DIS9ZR24: Chronic granulomatous disease DIS3QSS3: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
Disease Identifiers	MONDO ID MONDO_0009308 MESH ID C565533 UMLS CUI C1856255 OMIM ID 233690 MedGen ID 383872

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CYBA	OT16N9ZO	Strong	Autosomal recessive	[1]
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References

1	Molecular analysis of 9 new families with chronic granulomatous disease caused by mutations in CYBA, the gene encoding p22(phox). Blood. 2000 Aug 1;96(3):1106-12.