loading...| Preferred Name | MHC class I deficiency | |
| Synonyms |
BARE lymphocyte syndrome, type I Bare lymphocyte syndrome, type 1 HLA Class 1 deficiency Bls, type 1 BLS type 1 bare lymphocyte syndrome type I HLA CLASS I deficiency BLS, type I immunodeficiency by defective expression of HLA class type 1 immunodeficiency by defective expression of HLA class 1 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 |
|
| database_cross_reference |
icd11.foundation:489749747 NANDO:1200328 SCTID:725136003 NANDO:2200701 OMIMPS:604571 Orphanet:34592 UMLS:C1858266 MEDGEN:346868 DOID:0060009 GARD:8427 |
|
| 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. |
|
| exactMatch |
http://identifiers.org/medgen/346868 https://omim.org/phenotypicSeries/PS604571 http://linkedlifedata.com/resource/umls/id/C1858266 http://identifiers.org/snomedct/725136003 |
|
| has_exact_synonym |
bare lymphocyte syndrome type I HLA CLASS I deficiency BLS, type I immunodeficiency by defective expression of HLA class type 1 immunodeficiency by defective expression of HLA class 1 Bare lymphocyte syndrome type 1 BLSI |
|
| has_related_synonym |
BARE lymphocyte syndrome, type I Bare lymphocyte syndrome, type 1 HLA Class 1 deficiency Bls, type 1 BLS type 1 |
|
| IAO_0000233 | ||
| id |
MONDO:0011476 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disorder http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare http://purl.obolibrary.org/obo/mondo#otar |
|
| label |
MHC class I deficiency |
|
| notation |
MONDO:0011476 |
|
| preferred label |
MHC class I deficiency |
|
| prefLabel |
MHC class I deficiency |
|
| excluded_subClassOf | ||
| subClassOf |