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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:MHC class I deficiency
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Accession:DOID:0060009 term browser browse the term
Definition: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)
Synonyms:exact_synonym: BARE LYMPHOCYTE SYNDROME TYPE 1;   BLS, Type I;   BLSI;   Bare Lymphocyte Syndrome, Type I;   HLA Class I Deficiency
 primary_id: MESH:C565759;   RDO:0014312
 alt_id: OMIM:604571
For additional species annotation, visit the Alliance of Genome Resources.


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MHC class I deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tap1 transporter 1, ATP binding cassette subfamily B member ISO ClinVar Annotator: match by term: Bare lymphocyte syndrome type 1
ClinVar Annotator: match by term: HLA CLASS I DEFICIENCY
ClinVar Annotator: match by OMIM:604571
OMIM
ClinVar
PMID:3891604, PMID:8640228, PMID:10074494, PMID:16299152, PMID:16624613, PMID:25741868, PMID:28492532 NCBI chr20:3,979,302...3,989,669
Ensembl chr20:3,979,035...3,989,669
JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member ISO ClinVar Annotator: match by term: Bare lymphocyte syndrome type 1
ClinVar Annotator: match by term: HLA CLASS I DEFICIENCY
ClinVar Annotator: match by OMIM:604571
OMIM
ClinVar
PMID:1570316, PMID:7517574, PMID:10560675, PMID:11529920, PMID:12067308, PMID:23662797, PMID:24033266, PMID:25741868, PMID:26122175, PMID:28492532 NCBI chr20:3,995,544...4,009,587
Ensembl chr20:3,995,544...4,009,587
JBrowse link
G Tapbp TAP binding protein ISO ClinVar Annotator: match by OMIM:604571
ClinVar Annotator: match by term: HLA CLASS I DEFICIENCY
ClinVar Annotator: match by term: Bare lymphocyte syndrome type 1
OMIM
ClinVar
PMID:12149238, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr20:5,468,056...5,476,007
Ensembl chr20:5,468,078...5,476,193
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      primary immunodeficiency disease 2344
        combined immunodeficiency 148
          severe combined immunodeficiency 91
            MHC class I deficiency 3
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      Immune & Inflammatory Diseases 3508
        immune system disease 2928
          primary immunodeficiency disease 2344
            combined immunodeficiency 148
              severe combined immunodeficiency 91
                MHC class I deficiency 3
paths to the root

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