Details of Disease | DrugMAP

General Information of Disease (ID: DISMSEDG)

Disease Name	Granulomatous disease, chronic, autosomal recessive, 5
Synonyms	chronic granulomatous disease 5, autosomal recessive; granulomatous disease, chronic, autosomal recessive, 5; CGD5; Granulomatous Disease, Chronic, Due to Cybc1 Deficiency; GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5
Disease Hierarchy	DIS9ZR24: Chronic granulomatous disease DISMSEDG: Granulomatous disease, chronic, autosomal recessive, 5
Disease Identifiers	MONDO ID MONDO_0030066 UMLS CUI C5394542 OMIM ID 618935 MedGen ID 1710326

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
CYBC1	OTGTH90I	Strong	Autosomal recessive	[1]
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References

1	Eros is a novel transmembrane protein that controls the phagocyte respiratory burst and is essential for innate immunity. J Exp Med. 2017 Apr 3;214(4):1111-1128. doi: 10.1084/jem.20161382. Epub 2017 Mar 28.