granulomatous disease, chronic, autosomal recessive, cytochrome B-Positive, type I

Preferred Label : granulomatous disease, chronic, autosomal recessive, cytochrome B-Positive, type I;

MeSH note : mutation in NCF1;

MeSH synonym : granulomatous disease, chronic, due to NCF1 deficiency; P47-Phox, deficiency of; soluble oxidase component II, deficiency of; CGD, autosomal recessive cytochrome B-Positive, type I; neutrophil cytosol factor 1, deficiency of;

Details

Origin ID

C565532;

UMLS CUI

C1856251;

Currated CISMeF NLP mapping
- Autosomal Recessive Cytochrome B-Positive Chronic Granulomatous Disease Type I [NCIt concept]
- Granulomatous disease, chronic, autosomal recessive, 1 [OMIM Phenotype]
- autosomal recessive chronic granulomatous disease cytochrome b-positive type I [DO Concept]
- chronic granulomatous disease autosomal recessive cytochrome b-positive type I [Disease (Nov.)]
MeSH term(s) associated for indexing
- NADPH Oxidases [MeSH Descriptor]
- granulomatous disease, chronic [MeSH Descriptor]
Record concept(s)
- granulomatous disease, chronic, autosomal recessive, cytochrome B-Positive, type I [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal Recessive Cytochrome B-Positive Chronic Granulomatous Disease Type I [NCIt concept]
- Granulomatous disease, chronic, autosomal recessive, 1 [OMIM Phenotype]
- chronic granulomatous disease autosomal recessive cytochrome b-positive type I [Disease (Nov.)]

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