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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:Fanconi anemia complementation group U
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Accession:DOID:0111085 term browser browse the term
Definition:A Fanconi anemia that has_material_basis_in homozygous mutation in the XRCC2 gene on chromosome 7q36. (DO)
Synonyms:exact_synonym: FANCU;   Fanconi anemia of complementation group U
 primary_id: OMIM:617247


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Fanconi anemia complementation group U term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xrcc2 X-ray repair complementing defective repair in Chinese hamster cells 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia complementation group U		 OMIM
CTD
ClinVar		 PMID:11118202 PMID:19690184 PMID:22232082 PMID:22464251 PMID:23054243 More... NCBI chr 5:25,894,812...25,910,795
Ensembl chr 5:25,894,810...25,910,823 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    physical disorder 5001
      congenital hypoplastic anemia 236
        Fanconi anemia 83
          Fanconi anemia complementation group U 1
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      Hemic and Lymphatic Diseases 3776
        hematopoietic system disease 3274
          bone marrow disease 762
            Bone Marrow Failure Disorders 309
              aplastic anemia 283
                congenital hypoplastic anemia 236
                  Fanconi anemia 83
                    Fanconi anemia complementation group U 1
paths to the root