Immunodeficiency, common variable, 11

Preferred Label : Immunodeficiency, common variable, 11;

Symbol : CVID11;

CISMeF acronym : CVID11;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Il21 deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the interleukin 21 gene (IL21, 605384.0001);

Prefixed ID : #615767;

Details

Origin ID

615767;

UMLS CUI

C5567788;

Currated CISMeF NLP mapping
- IL21-related infantile inflammatory bowel disease [ORDO Disease]
- Immunodeficiency, Common Variable, 11 [NCIt concept]
- Interleukin 21 related infantile inflammatory bowel disease (disorder) [SNOMED CT concept]
DO Cross reference
- common variable immunodeficiency [DO Concept]
Genes related to phenotype
- Interleukin 21 [OMIM gene]
HPO term(s)
- Aphthous ulcer [HPO term]
- Autosomal recessive inheritance [HPO term]
- Clubbing of fingers [HPO term]
- Crohn's disease [HPO term]
- Decreased circulating IgG level [HPO term]
- Decreased proportion of class-switched memory B cells [HPO term]
- Failure to thrive [HPO term]
- Fatigue [HPO term]
- Growth delay [HPO term]
- Increased circulating IgE level [HPO term]
- Infantile onset [HPO term]
- Inflammation of the large intestine [HPO term]
- Mucoid diarrhea [HPO term]
- Recurrent respiratory infections [HPO term]
Not associated HPO term(s)
- Abnormal T cell count [HPO term]
ORDO concept(s)
- IL21-related infantile inflammatory bowel disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Immunodeficiency, Common Variable, 11 [NCIt concept]
- Interleukin 21 related infantile inflammatory bowel disease (disorder) [SNOMED CT concept]
Validated automatic mappings to NTBT
- common variable immunodeficiency [DO Concept]

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