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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 +   
Primary immunodeficiency syndrome characterized by recurrent infections and hyperimmunoglobulinemia E. Most cases are sporadic. Of the rare familial forms, the dominantly inherited subtype has additional connective tissue, dental and skeletal involvement that the recessive type does not share.
hyper IgM syndrome +   

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 ;   NCI:C126342 ;   OMIM:PS147060
Definition Sources: https://ghr.nlm.nih.gov/condition/autosomal-dominant-hyper-ige-syndrome#synonyms

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.