About: immunodeficiency 48

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An Entity of Type : owl:Class, within Data Space : demo.openlinksw.com associated with source document(s)

Attributes	Values
type	Class
subClassOf	autosomal recessive disease T cell deficiency nodeID://b50945785
label	immunodeficiency 48
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111943
database_cross_reference	GARD:387 MESH:C537590 OMIM:269840 ORDO:911 UMLS_CUI:C1849236
has_exact_synonym	IMD48 combined immunodeficiency due to ZAP70 deficiency zeta-associated-protein 70 deficiency
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A T cell deficiency characterized by a selective T cell defect where circulating T cells exclusively express CD4, CD3, and T-cell receptor-alpha/beta and not CD8 on their surfaces that has_material_basis_in homozygous or compound heterozygous mutation in ZAP70 on chromosome 2q11.2.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50945786

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