FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term hyper IgE recurrent infection syndrome 1 ID (Ontology) DOID:3261 (Human Disease)
Definition A hyper IgE syndrome that has_material_basis_in heterozygous mutation in the STAT3 gene on chromosome 17q21.
Also Known As "hyperimmunoglobulin E syndrome" ; "Job syndrome" ; "Job's syndrome" (for all, see Synonyms field below)
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 Genes
 hyper IgE recurrent infection syndrome 1       1
 for disease ribbon | hyper IgE recurrent infection syndrome 1       1
 model of | hyper IgE recurrent infection syndrome 1       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
hyperimmunoglobulin syndrome    |
 |__hyper IgE syndrome__________|
                                hyper IgE recurrent infection syndrome 1  1 rec.
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Is a autosomal dominant disease
hyper IgE syndrome
Part of
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Synonyms
  • "hyperimmunoglobulin E syndrome" EXACT
    "Job syndrome" EXACT
    "Job's syndrome" EXACT
    "STAT3 Hyper IgE syndrome" EXACT
Secondary IDs
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GARD:6800
MESH:D007589
MIM:147060
NCI:C126342
NCI:C126343
ORDO:2314
UMLS_CUI:C1968689
UMLS_CUI:C2936739