Visualize Submit Comment
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

GARD:2816

OMIM:243700

ORDO:217390

Subsets

DO_rare_slim

Parent Relationships

is_a hyper IgE syndrome

is_a autosomal recessive disease

Add an item to the term tracker