Preferred Name

MHC class I deficiency

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

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

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.

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

has_related_synonym

Bls, type 1

Bare lymphocyte syndrome, type 1

BLS type 1

BARE lymphocyte syndrome, type I

HLA Class 1 deficiency

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/4521

label

MHC class I deficiency

prefixIRI

MONDO:0011476

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.

subClassOf

http://purl.obolibrary.org/obo/MONDO_0018814

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