About: immunodeficiency 42

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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://b50945779
label	immunodeficiency 42
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111940
database_cross_reference	OMIM:616622 ORDO:477857
has_exact_synonym	autosomal recessive primary immunodeficiency due to RORC mutation IMD42 autosomal recessive MSMD due to complete RORgamma receptor defiency autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A primary immunodeficiency disease characterized by onset in infancy of increased susceptibility to mycobacterial and candidal infections that has_material_basis_in homozygous or compound heterozygous mutation in RORC on chromosome 1q21.3.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50945780

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