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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:selective IgG deficiency disease
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Accession:DOID:14176 term browser browse the term
Definition:A dysgammaglobulinemia that is characterized by isolated deficiency of an IgG subclass, normal total IgG levels, and subsequent increased susceptibility to recurrent infections, atopic disease, and autoimmune conditions. (DO)
Synonyms:exact_synonym: IgG Deficiencies;   IgG Deficiency;   immunoglobin G subclass deficiency;   selective IgG Immunodeficiency;   selective deficiency of IgG;   selective immunoglobulin G deficiency;   selective immunoglobulin G subclass deficiency
 primary_id: MESH:D017099
 xref: GARD:10371;   ICD10CM:D80.3;   NCI:C27024;   NCI:C27142
For additional species annotation, visit the Alliance of Genome Resources.

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selective IgG deficiency disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifng interferon gamma ISO mRNA:decreased expression:peripheral blood leukocyte: RGD PMID:9042436 RGD:10755693 NCBI chrNW_004936545:6,139,130...6,144,543
Ensembl chrNW_004936545:6,139,116...6,148,452 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      hematopoietic system disease 2990
        blood protein disease 552
          dysgammaglobulinemia 43
            selective IgG deficiency disease 1
              IgG2 Deficiency 0
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      Immune & Inflammatory Diseases 4721
        immune system disease 4107
          primary immunodeficiency disease 3540
            B cell deficiency 323
              selective immunoglobulin deficiency disease 43
                dysgammaglobulinemia 43
                  selective IgG deficiency disease 1
                    IgG2 Deficiency 0
paths to the root