X-linked Chronic Granulomatous Disease

Preferred Label : X-linked Chronic Granulomatous Disease;

NCIt synonyms : CDGX;

NCIt definition : An X-linked recessive form of chronic granulomatous disease caused by mutation(s) in the CYBB gene, encoding cytochrome b-245 beta chain.;

Details

Origin ID

C154315;

UMLS CUI

C1844376;

Automatic exact mappings (from CISMeF team)
- Congenital disorder of glycosylation, type I/iix [OMIM Phenotype]
Currated CISMeF NLP mapping
- Granulomatous disease, chronic, X-linked [OMIM Phenotype]
- X-linked chronic granulomatous disease [DO Concept]
- granulomatous disease, chronic, X-Linked [MeSH concept]
- x linked chronic granulomatous disease [Disease (Nov.)]
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, X-linked [OMIM Phenotype]
- granulomatous disease, chronic, X-Linked [MeSH concept]
- x linked chronic granulomatous disease [Disease (Nov.)]
Validated automatic mappings to NTBT
- granulomatous disease, chronic [MeSH Descriptor]
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
- CYBB Gene [NCIt concept]
related_to_genetic_biomarker
- CYBB Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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