hyper IgE recurrent infection syndrome 1

Summary

DOID:3261 - hyper IgE recurrent infection syndrome 1

Disease Ontology Definition:A hyper IgE syndrome that has_material_basis_in heterozygous mutation in the STAT3 gene on chromosome 17q21.

Synonyms: Job syndrome, Job's syndrome, hyperimmunoglobulin E syndrome,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: stat3, stat3.2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0007818 - hyper-IgE recurrent infection syndrome 1, autosomal dominant

MONDO:0007818 - hyper-IgE recurrent infection syndrome 1, autosomal dominant

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), hyper IgE syndrome (is_a), hyperimmunoglobulin syndrome (is_a)