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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:agammaglobulinemia 10
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Accession:DOID:0081142 term browser browse the term
Definition:An agammaglobulinemia that is characterized by early-childhood onset of recurrent viral and bacterial infections affecting various organ systems, particularly the sinopulmonary system. and that has_material_basis_in heterozygous mutation in the SPI1 gene on chromosome 11p11. (DO)
Synonyms:exact_synonym: AGM10;   Agammaglobulinemia 10, Autosomal Dominant;   agammaglobulinemia, autosomal dominant, due to SPI1 defect
 primary_id: MIM:619707
 alt_id: DOID:9001108


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agammaglobulinemia 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPI1 Spi-1 proto-oncogene IAGP ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL DOMINANT, DUE TO SPI1 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 10, autosomal dominant OMIM
ClinVar		 PMID:25741868 PMID:33951726 NCBI chr11:47,354,860...47,378,547
Ensembl chr11:47,354,860...47,409,369 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35758
    syndrome 18163
      primary immunodeficiency disease 5032
        lymphoproliferative syndrome 1352
          agammaglobulinemia 558
            agammaglobulinemia 10 1
Path 2
Term Annotations click to browse term
  disease 35758
    disease of anatomical entity 0
      Immune & Inflammatory Diseases 6745
        immune system disease 5906
          Immunoproliferative Disorders 1362
            lymphoproliferative syndrome 1352
              agammaglobulinemia 558
                agammaglobulinemia 10 1
paths to the root