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ONTOLOGY REPORT - ANNOTATIONS


Term:MHC class II deficiency
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Accession:DOID:5812 term browser browse the term
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. (DO)
Synonyms:exact_synonym: BLS;   BLS Type II;   BLSII;   Bare Lymphocyte Syndrome Type 2, Complementation Group A;   Bare Lymphocyte Syndrome Type 2, Complementation Group E;   Bare Lymphocyte Syndrome, Type II, Complementation Group A;   Bare lymphocyte syndrome type 2;   SCID due to absent class II HLA antigens;   SCID, HLA class 2-negative;   SCID, HLA class II-negative;   bare lymphocyte syndrome 2;   bare lymphocyte syndrome type II;   severe combined immunodeficiency, HLA class II-negative
 narrow_synonym: BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP B;   BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP C;   BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP D;   BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP E
 primary_id: MESH:C537079;   MESH:C565910
 alt_id: OMIM:209920;   RDO:0002851;   RDO:0014424;   RDO:9002914
 xref: ICD10CM:D81.6;   NCI:C3895
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MHC class II deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ciita class II, major histocompatibility complex, transactivator JBrowse link 10 5,212,621 5,260,641 RGD:1600188
RGD:8554872
RGD:7240710
RGD:5491200
G Nr2c2ap nuclear receptor 2C2-associated protein JBrowse link 16 21,036,648 21,039,481 RGD:8554872
G Rfx5 regulatory factor X5 JBrowse link 2 196,119,054 196,128,109 RGD:8554872
RGD:7240710
G Rfxank regulatory factor X-associated ankyrin-containing protein JBrowse link 16 21,029,449 21,037,080 RGD:8554872
RGD:7240710
G Rfxap regulatory factor X-associated protein JBrowse link 2 144,003,453 144,007,636 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7613
        Infant, Newborn, Diseases 411
          severe combined immunodeficiency 51
            MHC class II deficiency 5
Path 2
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7613
        genetic disease 7096
          monogenic disease 4788
            X-linked monogenic disease 856
              combined T cell and B cell immunodeficiency 65
                severe combined immunodeficiency 51
                  MHC class II deficiency 5
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.