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MHC class I deficiency

Go to external page http://purl.obolibrary.org/obo/MONDO_0011476

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. [ Orphanet:34592 ]

Synonyms: bare lymphocyte syndrome type I Bare lymphocyte syndrome type 1 immunodeficiency by defective expression of HLA class 1 immunodeficiency by defective expression of HLA class type 1 bare lymphocyte syndrome, type I, due to TAP2 deficiency MHC class I deficiency HLA CLASS I deficiency BLS, type I BLSI

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:604571 (Orphanet:34592/e)
  • DOID:0060009 (MONDO:equivalentTo)
  • UMLS:C1858266 (Orphanet:34592)
  • SCTID:725136003 (MONDO:equivalentTo)
  • Orphanet:34592 (OMIM:604571)
  • GARD:8427 (Orphanet:34592)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

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

exactMatch

http://identifiers.org/snomedct/725136003

http://purl.obolibrary.org/obo/DOID_0060009

https://omim.org/entry/604571

http://www.orpha.net/ORDO/Orphanet_34592

http://linkedlifedata.com/resource/umls/id/C1858266

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015974

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

has related synonym

Bls, type 1

BLS type 1

BARE lymphocyte syndrome, type I

HLA Class 1 deficiency

Bare lymphocyte syndrome, type 1

id

MONDO:0011476

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0011476

Term relations