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Disease Ontology Browser
MHC class II deficiency (DOID:5812)
Alliance: disease page
Synonyms: bare lymphocyte syndrome type II; BLSII; SCID due to absent class II HLA antigens
Alt IDs: OMIM:209920, ICD10CM:D81.6, MESH:D016511, NCI:C3895, UMLS_CUI:C0242583
Definition: 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.

Disease References using Mouse Models (2)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
10/29/2024
MGI 6.24 		The Jackson Laboratory