Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
MHC class I deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tap1 transporter 1, ATP binding cassette subfamily B member JBrowse link 20 3,979,302 3,989,669 RGD:7240710
RGD:8554872
G Tap2 transporter 2, ATP binding cassette subfamily B member JBrowse link 20 3,995,544 4,009,587 RGD:7240710
RGD:8554872
G Tapbp TAP binding protein JBrowse link 20 5,468,056 5,476,007 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 0
    Developmental Diseases 8822
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7612
        Infant, Newborn, Diseases 411
          severe combined immunodeficiency 51
            MHC class I deficiency 3
Path 2
Term Annotations click to browse term
  disease 0
    Developmental Diseases 8822
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7612
        genetic disease 7095
          monogenic disease 4789
            X-linked monogenic disease 855
              combined T cell and B cell immunodeficiency 65
                severe combined immunodeficiency 51
                  MHC class I deficiency 3
paths to the root

NHLBI Logo

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