| 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.ncbi.nlm.nih.gov/books/NBK25507/, https://www.niaid.nih.gov/diseases-conditions/stat3-dominant-negative-disease |
| Xrefs | |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
hyperimmunoglobulin E syndrome [EXACT] Job syndrome [EXACT] Job's syndrome [EXACT] STAT3 Hyper IgE syndrome [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a hyper IgE syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |