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Term:
MHC class II deficiency (DOID:5812)
Annotations: Rat: (5) Mouse: (5) Human: (5) Chinchilla: (5) Bonobo: (5) Dog: (5) Squirrel: (5) Pig: (5)
Parent Terms Term With Siblings Child Terms
adenosine deaminase deficiency  
CD3delta deficiency 
CD3epsilon deficiency 
CD3gamma deficiency 
CD3zeta deficiency 
CD45 deficiency 
Combined Cellular and Humoral Immune Defects with Granulomas  
coronin-1A deficiency  
HLA Class 1 Deficiency 
Immune Dysfunction with T-Cell Inactivation due to Calcium Entry Defect 1  
Immune Dysfunction with T-Cell Inactivation due to Calcium Entry Defect 2  
Immunodeficiency 48  
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES  
interleukin-7 receptor alpha deficiency 
janus kinase-3 deficiency  
MHC class I deficiency  
MHC class II deficiency  
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)
Omenn syndrome  
recombinase activating gene 1 deficiency 
recombinase activating gene 2 deficiency  
reticular dysgenesis  
Reticuloendotheliosis, X-Linked 
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation  
severe combined immunodeficiency with sensitivity to ionizing radiation  
Severe Combined Immunodeficiency, Atypical  
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive  
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative  
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive  
Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency 
T-cell immunodeficiency, congenital alopecia, and nail dystrophy  
T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations  
X-linked severe combined immunodeficiency  

Synonyms
Exact Synonyms: 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 Synonyms: 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 IDs: MESH:C537079 ;   MESH:C565910
Alternate IDs: OMIM:209920 ;   RDO:0002851 ;   RDO:0014424 ;   RDO:9002914
Xrefs: ICD10CM:D81.6 ;   NCI:C3895
Definition Sources: https://ghr.nlm.nih.gov/condition/bare-lymphocyte-syndrome-type-ii, https://www.omim.org/entry/209920

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.