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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
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Accession:DOID:9008152 term browser browse the term
Synonyms:exact_synonym: AGM8
 narrow_synonym: AGM8A;   AGM8B;   agammaglobulinemia 8, autosomal dominant;   agammaglobulinemia 8A, autosomal dominant;   agammaglobulinemia 8B, autosomal recessive;   agammaglobulinemia, autosomal dominant, due to TCF3 defect;   agammaglobulinemia, autosomal recessive, due to TCF3 defect
 primary_id: OMIM:616941;   OMIM:619824
For additional species annotation, visit the Alliance of Genome Resources.



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Agammaglobulinemia 8 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 8B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Agammaglobulinemia 8, autosomal dominant OMIM
ClinVar
PMID:21693761 PMID:24216514 PMID:25741868 PMID:28492532 PMID:28532655 More... NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    syndrome 9634
      primary immunodeficiency disease 3820
        lymphoproliferative syndrome 889
          agammaglobulinemia 234
            Agammaglobulinemia 8 1
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      Immune & Inflammatory Diseases 5154
        immune system disease 4479
          Immunoproliferative Disorders 900
            lymphoproliferative syndrome 889
              agammaglobulinemia 234
                Agammaglobulinemia 8 1
paths to the root