About: immunodeficiency 27B

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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 dominant disease primary immunodeficiency disease nodeID://b50945811
label	immunodeficiency 27B
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111956
database_cross_reference	OMIM:615978 ORDO:319581
has_exact_synonym	autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency IMD27B autosomal dominant IFNGR1 deficiency autosomal dominant MSMD due to partial IFNgammaR1 deficiency autosomal dominant immunodeficiency 27B, mycobacteriosis autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A primary immunodeficiency disease characterized by residual cellular responses to IFNG in vitro, recurrent, moderately severe infections with environmental mycobacteria or bacillus Calmette-Guerin that has_material_basis_in heterozygous mutation in IFNGR1 on chromosome 6q23.3.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50945812

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