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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 9
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Accession:DOID:0081141 term browser browse the term
Definition:An agammaglobulinemia that is characterized by recurrent bacterial infections associated with agammaglobulinemia and absence of circulating B cells and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC39A7 gene on chromosome 6p21. (DO)
Synonyms:exact_synonym: AGM9;   Agammaglobulinemia 9, Autosomal Recessive;   agammaglobulinemia, autosomal recessive, due to SLC39A7 defect
 primary_id: MIM:619693
 alt_id: DOID:9008336


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agammaglobulinemia 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc39a7 solute carrier family 39 member 7 ISO ClinVar Annotator: match by term: Agammaglobulinemia 9, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30718914 NCBI chr20:4,823,166...4,826,538
Ensembl chr20:4,822,012...4,826,537 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19087
    syndrome 11180
      primary immunodeficiency disease 4306
        lymphoproliferative syndrome 1135
          agammaglobulinemia 363
            agammaglobulinemia 9 1
Path 2
Term Annotations click to browse term
  disease 19087
    disease of anatomical entity 18376
      Immune & Inflammatory Diseases 5741
        immune system disease 4930
          Immunoproliferative Disorders 1143
            lymphoproliferative syndrome 1135
              agammaglobulinemia 363
                agammaglobulinemia 9 1
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