Preferred Name |
MHC class I deficiency |
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Synonyms |
Bls, type 1 Bare lymphocyte syndrome, type 1 BLS type 1 BARE lymphocyte syndrome, type I HLA Class 1 deficiency immunodeficiency by defective expression of HLA class type 1 BLS, type I HLA CLASS I deficiency immunodeficiency by defective expression of HLA class 1 bare lymphocyte syndrome, type I, due to TAP2 deficiency bare lymphocyte syndrome type I Bare lymphocyte syndrome type 1 BLSI |
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Definitions |
Immunodeficiency by defective expression of HLA class 1 is a very rare, primary, genetic, immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections. |
|
ID |
http://purl.obolibrary.org/obo/MONDO_0011476 |
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altLabel |
Bls, type 1 Bare lymphocyte syndrome, type 1 BLS type 1 BARE lymphocyte syndrome, type I HLA Class 1 deficiency immunodeficiency by defective expression of HLA class type 1 BLS, type I HLA CLASS I deficiency immunodeficiency by defective expression of HLA class 1 bare lymphocyte syndrome, type I, due to TAP2 deficiency bare lymphocyte syndrome type I Bare lymphocyte syndrome type 1 BLSI |
|
definition |
Immunodeficiency by defective expression of HLA class 1 is a very rare, primary, genetic, immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections. |
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has_exact_synonym |
immunodeficiency by defective expression of HLA class type 1 BLS, type I HLA CLASS I deficiency immunodeficiency by defective expression of HLA class 1 bare lymphocyte syndrome, type I, due to TAP2 deficiency bare lymphocyte syndrome type I Bare lymphocyte syndrome type 1 BLSI |
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has_related_synonym |
Bls, type 1 Bare lymphocyte syndrome, type 1 BLS type 1 BARE lymphocyte syndrome, type I HLA Class 1 deficiency |
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IAO_0000233 | ||
label |
MHC class I deficiency |
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prefixIRI |
MONDO:0011476 |
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prefLabel |
MHC class I deficiency |
|
textual definition |
Immunodeficiency by defective expression of HLA class 1 is a very rare, primary, genetic, immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections. |
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subClassOf |