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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
CD40 ligand deficiency +   
Chediak-Higashi syndrome +   
chronic granulomatous disease +   
hyper IgE syndrome +   
A hyperimmunoglobulin syndrome that is characterized by eczema, distinct facial features, a tendency to experience bone fractures and recurrent bacterial infections of the skin and lungs. (DO)
hyper IgM syndrome +   
hyperimmunoglobulinemia D periodic fever syndrome  
immunodeficiency 34  

Synonyms
Exact Synonyms: HIE Syndrome ;   HIE syndromes ;   Hyper-IgE Syndromes ;   Hyperimmunoglobulinemia E Syndrome ;   Hyperimmunoglobulinemia E Syndromes ;   hyper immunoglobulin E syndrome ;   hyperimmunoglobulin E recurrent infection syndrome ;   hyperimmunoglobulin E syndrome
Narrow Synonyms: Hyper IgE Recurrent Infection Syndrome, Autosomal Recessive ;   Hyper IgE Syndrome, Autosomal Recessive ;   autosomal recessive HIES ;   hyper immunoglobulin E syndrome, autosomal recessive ;   hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive
Primary IDs: MESH:D007589
Xrefs: GARD:10956 ;   MIM:PS147060 ;   NCI:C3144
Definition Sources: https://ghr.nlm.nih.gov/condition/autosomal-dominant-hyper-ige-syndrome#synonyms "DO" "DO"

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