Immunodeficiency, Common Variable, 11

Preferred Label : Immunodeficiency, Common Variable, 11;

NCIt synonyms : CVID11;

NCIt related terms : IL21 Deficiency;

NCIt definition : An autosomal recessive subtype of common variable immunodeficiency caused by mutation(s) in the IL21 gene, encoding interleukin-21.;

Details

Origin ID

C176801;

UMLS CUI

C5567788;

Currated CISMeF NLP mapping
- IL21-related infantile inflammatory bowel disease [ORDO Disease]
- Immunodeficiency, common variable, 11 [OMIM Phenotype]
- Interleukin 21 related infantile inflammatory bowel disease (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Immunodeficiency, common variable, 11 [OMIM Phenotype]
- Interleukin 21 related infantile inflammatory bowel disease (disorder) [SNOMED CT concept]
disease_mapped_to_gene
- IL21 Gene [NCIt concept]
disease_may_have_associated_disease
- Lymphoproliferative Disease Associated with Primary Immune Disorder [NCIt concept]

Keyword's position in hierarchy(ies) :

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