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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:IgG2 Deficiency
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Accession:DOID:9003762 term browser browse the term
Definition:A dysgammaglobulinemia characterized by a deficiency of IMMUNOGLOBULIN G2.
Synonyms:exact_synonym: Igg2 deficiency, selective;   immunoglobulin IgG2 deficiency
 primary_id: RDO:9001177


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IgG2 Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IGH immunoglobulin heavy locus IAGP ClinVar Annotator: match by term: Igg2 deficiency, selective ClinVar PMID:9449702 NCBI chr14:105,586,437...106,879,844 JBrowse link
G IGHG2 immunoglobulin heavy constant gamma 2 (G2m marker) IAGP ClinVar Annotator: match by term: Igg2 deficiency, selective ClinVar PMID:9449702 NCBI chr14:105,643,203...105,644,789
Ensembl chr14:105,639,559...105,644,790 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97458
    disease of anatomical entity 91107
      hematopoietic system disease 8451
        blood protein disease 1302
          dysgammaglobulinemia 125
            selective IgG deficiency disease 3
              IgG2 Deficiency 2
Path 2
Term Annotations click to browse term
  disease 97458
    disease of anatomical entity 91107
      Immune & Inflammatory Diseases 18509
        immune system disease 15101
          primary immunodeficiency disease 12630
            B cell deficiency 760
              selective immunoglobulin deficiency disease 125
                dysgammaglobulinemia 125
                  selective IgG deficiency disease 3
                    IgG2 Deficiency 2
paths to the root