About: immunodeficiency 28

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

Attributes	Values
type	Class
subClassOf	autosomal recessive disease primary immunodeficiency disease nodeID://b50945884
label	immunodeficiency 28
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111995
database_cross_reference	OMIM:614889 ORDO:319547
has_exact_synonym	Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency MSMD due to complete interferon gamma receptor 2 deficiency IFNGR2 deficiency IMD28 MSMD due to complete IFNgammaR2 deficiency immunodeficiency 28, mycobacteriosis Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial disease, high levels of IFNG in the plasma, and absence of cellular response to IFNG that has_material_basis_in homozygous or compound heterozygous mutation in IFNGR2 on chromosome 21q22.11.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50945885

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