About: severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive

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About: severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive Goto Sponge NotDistinct Permalink

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://b50942056
label	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0090014
database_cross_reference	ICD10CM:D81.2 OMIM:608971 ORDO:169154
has_exact_synonym	autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has_material_basis_in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50942057

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