Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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
 xref: NCI:C171267


show annotations for term's descendants           Sort by:
MHC class I deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psmb8 proteasome 20S subunit beta 8 ISO ClinVar Annotator: match by term: MHC class I deficiency ClinVar PMID:28492532 NCBI chr20:4,652,159...4,655,122
Ensembl chr20:4,652,159...4,655,283 		JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bare lymphocyte syndrome type 1 | ClinVar Annotator: match by term: HLA CLASS I DEFICIENCY | ClinVar Annotator: match by term: MHC class I deficiency		 OMIM
CTD
ClinVar		 PMID:1570316 PMID:3891604 PMID:8640228 PMID:9536098 PMID:10074494 More... NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901 		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 term: MHC class I deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1570316 PMID:7517574 PMID:9536098 PMID:10560675 PMID:11529920 More... NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407 		JBrowse link
G Tapbp TAP binding protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bare lymphocyte syndrome type 1 | ClinVar Annotator: match by term: HLA CLASS I DEFICIENCY | ClinVar Annotator: match by term: MHC class I deficiency		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:12149238 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr20:4,956,937...4,966,191
Ensembl chr20:4,956,937...4,966,181 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      primary immunodeficiency disease 4146
        combined immunodeficiency 897
          severe combined immunodeficiency 487
            MHC class I deficiency 4
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Immune & Inflammatory Diseases 5566
        immune system disease 4773
          primary immunodeficiency disease 4146
            combined immunodeficiency 897
              severe combined immunodeficiency 487
                MHC class I deficiency 4
paths to the root