Autosomal Recessive Cytochrome B-Positive Chronic Granulomatous Disease Type I

Preferred Label : Autosomal Recessive Cytochrome B-Positive Chronic Granulomatous Disease Type I;

NCIt synonyms : CDG1; Chronic Granulomatous Disease due to Deficiency of NCF-1;

NCIt definition : An autosomal recessive form of chronic granulomatous disease caused by mutation(s) in the NCF1 gene, encoding neutrophil cytosol factor 1.;

Details

Origin ID

C154314;

UMLS CUI

C1856251;

Currated CISMeF NLP mapping
- 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.)]
- granulomatous disease, chronic, autosomal recessive, cytochrome B-Positive, type I [MeSH concept]
- granulomatous disease, chronic, autosomal recessive, cytochrome B-Positive, type I [MeSH Supplementary Concept]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Granulomatous disease, chronic, autosomal recessive, 1 [OMIM Phenotype]
- chronic granulomatous disease autosomal recessive cytochrome b-positive type I [Disease (Nov.)]
- granulomatous disease, chronic, autosomal recessive, cytochrome B-Positive, type I [MeSH concept]
- granulomatous disease, chronic, autosomal recessive, cytochrome B-Positive, type I [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_normal_cell_origin
- Hematopoietic and Lymphoid Cell [NCIt concept]
disease_has_normal_tissue_origin
- Hematopoietic and Lymphoid Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Hematopoietic and Lymphatic System [NCIt concept]
disease_mapped_to_gene
- NCF1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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