About: immunodeficiency 29

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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://b50945799
label	immunodeficiency 29
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111950
database_cross_reference	OMIM:614890 ORDO:319558
has_exact_synonym	IL12B deficiency IMD29 MSMD due to complete IL12B deficiency MSMD due to complete interleukin 12B deficiency Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency immunodeficiency 29, mycobacteriosis Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A primary immunodeficiency disease characterized by undetectable IL12B secretion by leukocytes and increased susceptibility to intracellular bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in IL12B on chromosome 5q33.3.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50945800

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