Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas. [ Orphanet:379 ]
Synonyms: chronic septic granulomatosis CGD congenital dysphagocytosis Bridges-Good syndrome Quie syndrome
Term information
- NORD:968 (MONDO:NORD)
- OMIMPS:306400 (https://orcid.org/0000-0002-6601-2165)
- NCIT:C26788 (MONDO:equivalentTo)
- MEDGEN:5377 (MONDO:equivalentTo)
- MedDRA:10008906 (Orphanet:379/e)
- MESH:D006105 (Orphanet:379/e)
- UMLS:C0018203 (MONDO:equivalentTo)
- Orphanet:379 (MONDO:equivalentTo)
- NANDO:1200357 (https://orcid.org/0000-0003-0011-764X)
- DOID:3265 (MONDO:equivalentTo)
- NANDO:2200757 (https://orcid.org/0000-0003-0011-764X)
- SCTID:387759001 (MONDO:equivalentTo)
- GARD:6100 (MONDO:GARD)
gard_rare, ordo_disorder, otar, rare, nord_rare, orphanet_rare
http://www.orpha.net/ORDO/Orphanet_379
http://identifiers.org/snomedct/387759001
http://identifiers.org/mesh/D006105
https://omim.org/phenotypicSeries/PS306400
http://purl.obolibrary.org/obo/NCIT_C26788
http://identifiers.org/medgen/5377
http://purl.obolibrary.org/obo/DOID_3265
http://linkedlifedata.com/resource/umls/id/C0018203
http://purl.obolibrary.org/obo/MONDO_0015978
http://purl.obolibrary.org/obo/MONDO_0005265
http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql
Term relations
- inflammatory disease
- defective phagocytic cell engulfment
- phagocyte bactericidal dysfunction
- disease causes disruption of some immune system process
- disease has basis in dysfunction of some NADPH oxidase complex
- disease caused by disruption of some superoxide-generating NAD(P)H oxidase activity