About: X-linked severe combined immunodeficiency

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

OMIM mapping confirmed by DO. [LS].

Attributes	Values
type	Class
subClassOf	X-linked recessive disease severe combined immunodeficiency nodeID://b50938061
label	X-linked severe combined immunodeficiency
comment	OMIM mapping confirmed by DO. [LS].
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0060013
has_alternative_id	DOID:5811
database_cross_reference	GARD:5618 MESH:D053632 NCI:C4682 OMIM:300400 SNOMEDCT_US_2021_09_01:203592006 UMLS_CUI:C1279481
has_exact_synonym	SCID-X1 (en) X-Linked Severe Combined Immunodeficiency (en) XSCID (en) gamma chain deficiency (en) thymic epithelial hypoplasia (en)
has_obo_namespace	disease_ontology
in_subset	NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	A severe combined immunodeficiency that is a X-linked SCID that has_material_basis_in mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50938062

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