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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 8, Autosomal Dominant
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Accession:DOID:9008152 term browser browse the term
Synonyms:exact_synonym: AGAMMAGLOBULINEMIA, AUTOSOMAL DOMINANT, DUE TO TCF3 DEFECT;   AGM8;   agammaglobulinemia-8
 primary_id: OMIM:616941;   RDO:9001332
For additional species annotation, visit the Alliance of Genome Resources.


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Agammaglobulinemia 8, Autosomal Dominant term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tcf3 transcription factor 3 ISO ClinVar Annotator: match by term: Agammaglobulinemia 8, autosomal dominant ClinVar
OMIM
PMID:21693761 PMID:24216514 PMID:25741868 PMID:28492532 NCBI chr 7:12,146,642...12,168,400
Ensembl chr 7:12,144,162...12,168,410
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    syndrome 7057
      primary immunodeficiency disease 2376
        lymphoproliferative syndrome 682
          agammaglobulinemia 63
            Agammaglobulinemia 8, Autosomal Dominant 1
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      Immune & Inflammatory Diseases 3588
        immune system disease 2957
          Immunoproliferative Disorders 691
            lymphoproliferative syndrome 682
              agammaglobulinemia 63
                Agammaglobulinemia 8, Autosomal Dominant 1
paths to the root