Preferred Label : Hyper-ige recurrent infection syndrome 5, autosomal recessive;
Symbol : HIES5;
CISMeF acronym : HIES5;
Type : Phenotype, molecular basis known;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the interleukin 6 receptor gene (IL6R, 147880.0002);
Prefixed ID : #618944;
Origin ID : 618944;
UMLS CUI : C5394550;
- Genes related to phenotype
- HPO term(s)
- Semantic type(s)