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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 3
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Accession:DOID:0081137 term browser browse the term
Definition:An agammaglobulinemia that has_material_basis_in homozygous mutation in the CD79A gene on chromosome 19q13.2. (DO)
Synonyms:exact_synonym: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79A DEFECT;   AGM3;   Agammaglobulinemia 3, Autosomal Recessive
 primary_id: OMIM:613501
 alt_id: DOID:9009084


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agammaglobulinemia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD79A CD79a molecule ISO ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79A DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:10525050 PMID:11920841 PMID:16199547 PMID:17576681 More... NCBI chr19:38,765,067...38,769,556
Ensembl chr19:47,270,377...47,274,711 		JBrowse link
G RPS19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Agammaglobulinemia 3, autosomal recessive ClinVar PMID:28492532 NCBI chr19:38,748,604...38,760,055
Ensembl chr19:47,254,157...47,264,953 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15686
    syndrome 10232
      primary immunodeficiency disease 3808
        lymphoproliferative syndrome 1009
          agammaglobulinemia 298
            agammaglobulinemia 3 2
Path 2
Term Annotations click to browse term
  disease 15686
    disease of anatomical entity 15312
      Immune & Inflammatory Diseases 5061
        immune system disease 4406
          Immunoproliferative Disorders 1017
            lymphoproliferative syndrome 1009
              agammaglobulinemia 298
                agammaglobulinemia 3 2
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