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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 cross complementing 2 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group U OMIM
ClinVar		 PMID:11118202 PMID:19690184 PMID:22232082 PMID:22464251 PMID:23054243 More... NCBI chrNW_004936527:7,760,609...7,785,360
Ensembl chrNW_004936527:7,760,719...7,785,391 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    physical disorder 4664
      congenital hypoplastic anemia 218
        Fanconi anemia 79
          Fanconi anemia complementation group U 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      Hemic and Lymphatic Diseases 3445
        hematopoietic system disease 2990
          bone marrow disease 685
            Bone Marrow Failure Disorders 282
              aplastic anemia 256
                congenital hypoplastic anemia 218
                  Fanconi anemia 79
                    Fanconi anemia complementation group U 1
paths to the root