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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 6, Autosomal Recessive
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Accession:DOID:9001357 term browser browse the term
Synonyms:exact_synonym: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79B DEFECT;   AGM6
 primary_id: OMIM:612692;   RDO:0009882
For additional species annotation, visit the Alliance of Genome Resources.


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Agammaglobulinemia 6, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd79b CD79b molecule ISO ClinVar Annotator: match by OMIM:612692
ClinVar Annotator: match by term: Agammaglobulinemia 6, autosomal recessive
OMIM
ClinVar
PMID:17675462 PMID:17709424 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr10:94,497,445...94,500,591
Ensembl chr10:94,497,448...94,500,591
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    syndrome 7053
      primary immunodeficiency disease 2373
        lymphoproliferative syndrome 681
          agammaglobulinemia 63
            Agammaglobulinemia 6, Autosomal Recessive 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      Immune & Inflammatory Diseases 3585
        immune system disease 2954
          Immunoproliferative Disorders 690
            lymphoproliferative syndrome 681
              agammaglobulinemia 63
                Agammaglobulinemia 6, Autosomal Recessive 1
paths to the root