Immunodeficiency 63 with lymphoproliferation and autoimmunity

Preferred Label : Immunodeficiency 63 with lymphoproliferation and autoimmunity;

Symbol : IMD63;

CISMeF acronym : IMD63;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Interleukin 2 receptor, beta, deficiency of; Il2rb deficiency; Cd122 deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the interleukin 2 receptor, beta gene (IL2RB, 146710.0001);

Prefixed ID : #618495;

Details

Origin ID

618495;

UMLS CUI

C5193126;

Currated CISMeF NLP mapping
- immunodeficiency 63 [DO Concept]
DO Cross reference
- immunodeficiency 63 [DO Concept]
Genes related to phenotype
- Interleukin 2 receptor, beta [OMIM gene]
HPO term(s)
- Abnormal intestine morphology [HPO term]
- Autoimmune hemolytic anemia [HPO term]
- Autoimmunity [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased fetal movement [HPO term]
- Diarrhea [HPO term]
- Failure to thrive [HPO term]
- Hepatomegaly [HPO term]
- Ichthyosis [HPO term]
- Immunodeficiency [HPO term]
- Increased circulating antibody level [HPO term]
- Lymphadenopathy [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent respiratory infections [HPO term]
- Recurrent urinary tract infections [HPO term]
- Splenomegaly [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- immunodeficiency 63 [DO Concept]

Keyword's position in hierarchy(ies) :

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