Search Ontology:
Human Disease
hyper IgE recurrent infection syndrome 1
- Term ID
- DOID:3261
- Synonyms
-
- hyperimmunoglobulin E syndrome
- Job syndrome
- Job's syndrome
- STAT3 Hyper IgE syndrome
- Definition
- A hyper IgE syndrome that has_material_basis_in heterozygous mutation in the STAT3 gene on chromosome 17q21. (2)
- References
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- GARD:6800
- MESH:D007589
- MIM:147060
- NCI:C126342
- NCI:C126343
- ORDO:2314
- UMLS_CUI:C1968689
- UMLS_CUI:C2936739
- Ontology
- Human Disease ( DOID:3261 )
- is a type of
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Zebrafish Models