Metadata | |
---|---|
ID | DOID:0080594 |
Name | hyper IgE recurrent infection syndrome 2 |
Definition | A hyper IgE syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK8 gene on chromosome 9p24. https://ghr.nlm.nih.gov/condition/dock8-immunodeficiency-syndrome#synonyms, https://www.ncbi.nlm.nih.gov/pubmed/19776401 |
Xrefs | |
Subsets |
DO_rare_slim |
Parent Relationships |
is_a hyper IgE syndrome |