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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 II DEFICIENCY 3
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Accession:DOID:9008744 term browser browse the term
Definition:This disease is a rare autosomal recessive immunodeficiency characterized by the onset of recurrent and persistent infections from birth. Infectious agents include bacteria, viruses, fungi, and protozoa, usually affecting the respiratory and gastrointestinal tract. Laboratory studies show decreased CD4+ T cells, hypogammaglobulinemia, an inverted CD4:CD8 ratio, and absence of MHC type II antigens (HLA-DR, -DQ, and -DP) on the surface of antigen-presenting cells.
Synonyms:exact_synonym: BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP C;   MHC2D3
 xref: MIM:620816;   MONDO:0971014


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MHC CLASS II DEFICIENCY 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rfx5 regulatory factor X5 ISO ClinVar Annotator: match by term: MHC class II deficiency 3 ClinVar
OMIM		 PMID:7744245 PMID:9401005 PMID:10079298 PMID:25741868 PMID:28492532 More... NCBI chr 2:182,521,191...182,528,720
Ensembl chr 2:182,521,202...182,528,717 		JBrowse link
G Rfxank regulatory factor X-associated ankyrin-containing protein ISO ClinVar Annotator: match by term: MHC class II deficiency 3 ClinVar PMID:11313409 PMID:25741868 NCBI chr16:19,280,857...19,288,886
Ensembl chr16:19,281,475...19,460,255 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    syndrome 11270
      primary immunodeficiency disease 4308
        combined immunodeficiency 943
          severe combined immunodeficiency 527
            MHC class II deficiency 232
              MHC CLASS II DEFICIENCY 3 2
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      Immune & Inflammatory Diseases 5753
        immune system disease 4937
          primary immunodeficiency disease 4308
            combined immunodeficiency 943
              severe combined immunodeficiency 527
                MHC class II deficiency 232
                  MHC CLASS II DEFICIENCY 3 2
paths to the root