About: immunodeficiency 26

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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://b50945821
label	immunodeficiency 26
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111961
database_cross_reference	NCI:C176795 OMIM:615966 ORDO:317425 UMLS_CUI:C4014833
has_exact_synonym	IMD26 SCID due to DNA-PKcs deficiency immunodeficiency 26, with or without neurologic abnormalities severe combined immunodeficiency due to DNA-PKcs deficiency
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A severe combined immunodeficiency characterized by virtually absent peripheral B and T cells but normal numbers of NK cells, complete block in B-cell differentiation, and a defect in slow repair of DNA double-strand breaks in fibroblasts, that has_material_basis_in homozygous or compound heterozygous mutation in PRKDC on chromosome 8q11.21.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50945822

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