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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 2
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Accession:DOID:9006078 term browser browse the term
Definition:This disease is an autosomal recessive immunologic disorder characterized by the onset of chronic bacterial sinobronchial infections in the first or second decades of life. Patient cells have decreased or absent expression of MHC type I (HLA class I) antigens on the cell surface. This disease has_material_basis_in autosomal recessive inheritance of TAP2.
Synonyms:exact_synonym: MHC1D2;   TAP2-RELATED CONDITION
 xref: MIM:620813;   MONDO:0971011


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MHC CLASS I DEFICIENCY 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tap2 transporter 2, ATP binding cassette subfamily B member ISO ClinVar Annotator: match by term: MHC class I deficiency 2 | ClinVar Annotator: match by term: TAP2-related condition OMIM
ClinVar		 PMID:7517574 PMID:11529920 PMID:12067308 PMID:23662797 PMID:24033266 More... NCBI chr20:4,638,257...4,652,296
Ensembl chr20:4,636,357...4,650,407 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19142
    syndrome 11377
      primary immunodeficiency disease 4438
        combined immunodeficiency 949
          severe combined immunodeficiency 529
            MHC class I deficiency 22
              MHC CLASS I DEFICIENCY 2 1
Path 2
Term Annotations click to browse term
  disease 19142
    disease of anatomical entity 18455
      Immune & Inflammatory Diseases 5753
        immune system disease 5035
          primary immunodeficiency disease 4438
            combined immunodeficiency 949
              severe combined immunodeficiency 529
                MHC class I deficiency 22
                  MHC CLASS I DEFICIENCY 2 1
paths to the root