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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;   LRRC8A-RELATED CONDITION;   autosomal dominant agammaglobulinemia 5;   autosomal dominant agammaglobulinemia due to LRRC8A defect
 primary_id: OMIM:613506


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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 | ClinVar Annotator: match by term: LRRC8A-related condition OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:13,509,577...13,537,174
Ensembl chr 3:13,510,513...13,536,202 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      primary immunodeficiency disease 4151
        lymphoproliferative syndrome 1058
          agammaglobulinemia 293
            agammaglobulinemia 5 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Immune & Inflammatory Diseases 5573
        immune system disease 4781
          Immunoproliferative Disorders 1066
            lymphoproliferative syndrome 1058
              agammaglobulinemia 293
                agammaglobulinemia 5 1
paths to the root