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Ontology Browser

Term:
MHC class I deficiency (DOID:0060009)
Annotations: Rat: (3) Mouse: (3) Human: (5) Chinchilla: (3) Bonobo: (3) Dog: (3) Squirrel: (3) Pig: (3)
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 
immunodeficiency 10  
immunodeficiency 11A  
immunodeficiency 15B  
immunodeficiency 19  
immunodeficiency 22  
immunodeficiency 24  
immunodeficiency 26  
immunodeficiency 48  
immunodeficiency 9  
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities  
interleukin-7 receptor alpha deficiency 
janus kinase-3 deficiency  
MHC class I deficiency  
A severe combined immunodeficiency that is characterized by recurrent bacterial, viral, and fungal infections, especially of the lung, and sterile necrotizing granulomas of the skin, develops_from deficiency or decreased surface expression of MHC Class I, has_material_basis_in autosomal recessive inheritance of mutation affecting MHC Class I production or expression and frequently involves TAP1 and TAP2 subunits, and is typically asymptomatic in infancy. (DO)
MHC class II deficiency  
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: BARE LYMPHOCYTE SYNDROME TYPE 1 ;   BLS, Type I ;   BLSI ;   Bare Lymphocyte Syndrome, Type I ;   HLA Class I Deficiency
Primary IDs: MESH:C565759 ;   RDO:0014312
Alternate IDs: OMIM:604571
Xrefs: NCI:C171267
Definition Sources: https://en.wikipedia.org/wiki/Bare_lymphocyte_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/25001848 "DO"

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