ZFIN Human Disease: hyper IgE recurrent infection syndrome 1

OBO ID: DOID:3261

Term Name:	hyper IgE recurrent infection syndrome 1		Search Ontology:
Synonyms:	hyperimmunoglobulin E syndrome Job syndrome Job's syndrome
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
References:	GARD:6800 MESH:D007589 NCI:C126342 NCI:C126343 OMIM:147060 ORDO:2314 UMLS_CUI:C1968689 UMLS_CUI:C2936739
Ontology:	Human Disease ( DOID:3261 )

Relationships

is a type of:	autosomal dominant disease hyper IgE syndrome autosomal dominant disease hyper IgE syndrome Show first 5 Terms

OTHER hyper IgE recurrent infection syndrome 1 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
STAT3	stat3	Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections	147060

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None