About: hyper IgE recurrent infection syndrome 1

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

OMIM mapping confirmed by DO. [SN].

Attributes	Values
type	Class
subClassOf	autosomal dominant disease hyper IgE syndrome nodeID://b50951694
label	hyper IgE recurrent infection syndrome 1
comment	OMIM mapping confirmed by DO. [SN].
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:3261
database_cross_reference	GARD:6800 MESH:D007589 NCI:C126342 NCI:C126343 OMIM:147060 ORDO:2314 UMLS_CUI:C1968689 UMLS_CUI:C2936739
has_exact_synonym	Job syndrome (en) Job's syndrome (en) hyperimmunoglobulin E syndrome (en)
has_obo_namespace	disease_ontology
in_subset	NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	A hyper IgE syndrome that has_material_basis_in heterozygous mutation in the STAT3 gene on chromosome 17q21.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50951695

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