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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 5
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Accession:DOID:0080588 term browser browse the term
Definition:An agammaglobulinemia that has_material_basis_in heterozygous mutation in the LRRC8A gene on chromosome 9q34. (DO)
Synonyms:exact_synonym: AGM5;   autosomal dominant agammaglobulinemia 5;   autosomal dominant agammaglobulinemia due to LRRC8A defect
 primary_id: OMIM:613506
For additional species annotation, visit the Alliance of Genome Resources.



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agammaglobulinemia 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrc8a leucine rich repeat containing 8 VRAC subunit A ISO ClinVar Annotator: match by term: Agammaglobulinemia 5, autosomal dominant OMIM
ClinVar
PMID:14660746 PMID:25741868 PMID:28492532 NCBI chr 3:13,509,577...13,537,174
Ensembl chr 3:13,510,513...13,536,202
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      primary immunodeficiency disease 2723
        lymphoproliferative syndrome 778
          agammaglobulinemia 162
            agammaglobulinemia 5 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      Immune & Inflammatory Diseases 4036
        immune system disease 3398
          Immunoproliferative Disorders 788
            lymphoproliferative syndrome 778
              agammaglobulinemia 162
                agammaglobulinemia 5 1
paths to the root