About: MHC class II deficiency

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

OMIM mapping confirmed by DO. [SN].

Attributes	Values
type	Class
subClassOf	severe combined immunodeficiency
label	MHC class II deficiency
comment	OMIM mapping confirmed by DO. [SN].
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:5812
database_cross_reference	ICD10CM:D81.6 MESH:D016511 NCI:C3895 OMIM:209920 SNOMEDCT_US_2021_09_01:71904008 UMLS_CUI:C0242583
has_exact_synonym	BLSII (en) SCID due to absent class II HLA antigens (en) bare lymphocyte syndrome type II (en)
has_obo_namespace	disease_ontology
in_subset	NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	A severe combined immunodeficiency that is characterized by deficiency of MHC class II molecules that causes lack of immune protection against bacteria, viruses, and fungi and thus causes early death in childhood, and has_material_basis_in autosomal recessive inheritance of mutation in the CIITA, RFX5, RFXANK, and RFXAP genes.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50954390

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