hyper IgE syndrome

Term ID

DOID:0080545

Synonyms

hyper immunoglobulin E syndrome

Definition

A hyperimmunoglobulin syndrome that is characterized by eczema, distinct facial features, a tendency to experience bone fractures and recurrent bacterial infections of the skin and lungs. https://ghr.nlm.nih.gov/condition/autosomal-dominant-hyper-ige-syndrome#synonyms

References

GARD:10956
MIM:PS147060

Ontology

Human Disease ( DOID:0080545 )

Relationships

is a type of: hyperimmunoglobulin syndrome

hyperimmunoglobulin syndrome Show first 5 Terms
has subtype: hyper IgE recurrent infection syndrome 1 hyper IgE recurrent infection syndrome 2 hyper IgE recurrent infection syndrome 3 hyper IgE recurrent infection syndrome 4

hyper IgE recurrent infection syndrome 1 hyper IgE recurrent infection syndrome 2 hyper IgE recurrent infection syndrome 3 hyper IgE recurrent infection syndrome 4 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models