About: immunodeficiency 38

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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://b50945767
label	immunodeficiency 38
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111934
database_cross_reference	OMIM:616126 ORDO:319563
has_exact_synonym	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency IMD38 immunodeficiency 38 with basal ganglia calcification autosomal recessive ISG15 deficiency immunodeficiency 38, mycobacteriosis, autosomal recessive
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A primary immunodeficiency disease characterized by development of severe clinical disease upon infection with weakly virulent mycobacteria and intracranial calcification that has_material_basis_in homozygous or compound heterozygous mutation in ISG15 on chromosome 1p36.33.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50945768

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