About: immunodeficiency 11A

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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 severe combined immunodeficiency nodeID://b50945813
label	immunodeficiency 11A
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111957
database_cross_reference	OMIM:615206 ORDO:357237 UMLS_CUI:C3554686
has_exact_synonym	severe combined immunodeficiency due to CARD11 deficiency CARD11 deficiency IMD11A SCID due to CARD11 deficiency
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A severe combined immunodeficiency characterized by defective intracellular signaling in T and B cells, increased numbers of transitional B cells, hypogammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell function that has_material_basis_in homozygous or compound heterozygous mutation in CARD11 on chromosome 7p22.2.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50945814

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