| Metadata | |
|---|---|
| ID | DOID:3261 |
| Name | hyper IgE recurrent infection syndrome 1 |
| Definition | A hyper IgE syndrome that has_material_basis_in heterozygous mutation in the STAT3 gene on chromosome 17q21. https://www.niaid.nih.gov/diseases-conditions/hyper-immunoglobulin-e-syndrome-hies |
| Xrefs | |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
hyperimmunoglobulin E syndrome [EXACT] Job syndrome [EXACT] Job's syndrome [EXACT] |
| Parent Relationships |
is_a hyper IgE syndrome |