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Fanconi anemia complementation group U - Ontology Report - Rat Genome Database

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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: MIM:617247

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Path 1
Term Annotations click to browse term
  disease 19145
    physical disorder 5203
      congenital hypoplastic anemia 304
        Fanconi anemia 108
          Fanconi anemia complementation group U 1
Path 2
Term Annotations click to browse term
  disease 19145
    disease of anatomical entity 18457
      Hemic and Lymphatic Diseases 4334
        hematopoietic system disease 3842
          anemia 866
            normocytic anemia 756
              aplastic anemia 352
                congenital hypoplastic anemia 304
                  Fanconi anemia 108
                    Fanconi anemia complementation group U 1
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