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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
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Accession:DOID:0081138 term browser browse the term
Definition:An agammaglobulinemia that has_material_basis_in homozygous mutation in the CD79B gene on chromosome 17q23. (DO)
Synonyms:exact_synonym: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79B DEFECT;   AGM6;   Agammaglobulinemia 6, Autosomal Recessive
 primary_id: MIM:612692
 alt_id: DOID:9001357


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agammaglobulinemia 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd79b CD79b molecule ISO ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79B DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 6, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:17675462 PMID:17709424 PMID:24033266 More... NCBI chr10:91,739,134...91,742,312
Ensembl chr10:91,739,137...91,742,405 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      primary immunodeficiency disease 4502
        lymphoproliferative syndrome 1150
          agammaglobulinemia 380
            agammaglobulinemia 6 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      Immune & Inflammatory Diseases 5781
        immune system disease 5094
          Immunoproliferative Disorders 1158
            lymphoproliferative syndrome 1150
              agammaglobulinemia 380
                agammaglobulinemia 6 1
paths to the root