About: immunodeficiency 52

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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 T cell deficiency nodeID://b50945860
label	immunodeficiency 52
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111983
database_cross_reference	OMIM:617514 ORDO:504523 UMLS_CUI:C4479588
has_exact_synonym	IMD52 severe combined immunodeficiency due to LAT deficiency
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A T cell deficiency characterized by onset of severe recurrent infections in infancy and a defect in T-cell receptor signaling resulting in variable immunological disorders that has_material_basis_in homozygous or compound heterozygous mutation in LAT on chromosome 16p11.2.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50945861

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