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ONTOLOGY REPORT - ANNOTATIONS


Term:Fanconi anemia complementation group D1
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Accession:DOID:0111089 term browser browse the term
Definition:A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRCA2 gene on chromosome 13q13. (DO)
Synonyms:exact_synonym: FAD1;   FANCD1
 primary_id: MESH:C563980
 alt_id: OMIM:605724;   RDO:0013089
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Fanconi anemia complementation group D1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brca2 BRCA2, DNA repair associated JBrowse link 12 503,660 544,754 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15626
    Nutritional and Metabolic Diseases 4376
      disease of metabolism 4376
        DNA Repair-Deficiency Disorders 203
          Fanconi anemia 43
            Fanconi anemia complementation group D1 1
Path 2
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      Hemic and Lymphatic Diseases 0
        hematopoietic system disease 1451
          bone marrow disease 402
            aplastic anemia 150
              congenital hypoplastic anemia 104
                Fanconi anemia 43
                  Fanconi anemia complementation group D1 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.