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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 8B
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Accession:DOID:0081143 term browser browse the term
Definition:An agammaglobulinemia that is characterized by onset of recurrent infections in early childhood and that has_material_basis_in homozygous loss-of-function mutation in the TCF3 gene on chromosome 19p13. (DO)
Synonyms:exact_synonym: AGM8B;   agammaglobulinemia 8B, autosomal recessive;   agammaglobulinemia, autosomal recessive, due to TCF3 defect
 primary_id: OMIM:619824


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agammaglobulinemia 8B 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
OMIM		 PMID:28532655 PMID:30063982 NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10888
      primary immunodeficiency disease 4152
        lymphoproliferative syndrome 1059
          agammaglobulinemia 293
            Agammaglobulinemia 8 1
              agammaglobulinemia 8B 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Immune & Inflammatory Diseases 5574
        immune system disease 4782
          Immunoproliferative Disorders 1067
            lymphoproliferative syndrome 1059
              agammaglobulinemia 293
                Agammaglobulinemia 8 1
                  agammaglobulinemia 8B 1
paths to the root