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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;   TCF3-RELATED CONDITION


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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: TCF3-related condition ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:34618307 NCBI chr 2:76,859,079...76,906,275
Ensembl chr 2:76,859,089...76,898,351 		JBrowse link
agammaglobulinemia 8A 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 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21693761 PMID:24216514 PMID:25741868 More... NCBI chr 2:76,859,079...76,906,275
Ensembl chr 2:76,859,089...76,898,351 		JBrowse link
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 2:76,859,079...76,906,275
Ensembl chr 2:76,859,089...76,898,351 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    syndrome 9894
      primary immunodeficiency disease 3700
        lymphoproliferative syndrome 981
          agammaglobulinemia 284
            Agammaglobulinemia 8 1
              agammaglobulinemia 8A 1
              agammaglobulinemia 8B 1
Path 2
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      Immune & Inflammatory Diseases 4951
        immune system disease 4288
          Immunoproliferative Disorders 990
            lymphoproliferative syndrome 981
              agammaglobulinemia 284
                Agammaglobulinemia 8 1
                  agammaglobulinemia 8A 1
                  agammaglobulinemia 8B 1
paths to the root