Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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
go back to main search page
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: MIM:619824


show annotations for term's descendants           Sort by:
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, AUTOSOMAL RECESSIVE, DUE TO TCF3 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 8b, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28532655 PMID:30063982 PMID:34618307 NCBI chr10:80,245,375...80,269,814
Ensembl chr10:80,245,348...80,269,481 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16188
    syndrome 10683
      primary immunodeficiency disease 4021
        lymphoproliferative syndrome 1114
          agammaglobulinemia 365
            Agammaglobulinemia 8 1
              agammaglobulinemia 8B 1
Path 2
Term Annotations click to browse term
  disease 16188
    disease of anatomical entity 15805
      Immune & Inflammatory Diseases 5354
        immune system disease 4626
          Immunoproliferative Disorders 1122
            lymphoproliferative syndrome 1114
              agammaglobulinemia 365
                Agammaglobulinemia 8 1
                  agammaglobulinemia 8B 1
paths to the root