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ONTOLOGY REPORT - ANNOTATIONS


Term:Fanconi anemia complementation group J
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Accession:DOID:0111097 term browser browse the term
Definition:A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRIP1 gene on chromosome 17q22. (DO)
Synonyms:exact_synonym: FANCJ
 narrow_synonym: BRIP1-RELATED DISORDER
 primary_id: MESH:C563801
 alt_id: OMIM:609054;   RDO:0012967
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Fanconi anemia complementation group J term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brip1 BRCA1 interacting protein C-terminal helicase 1 JBrowse link 10 73,507,009 73,632,742 RGD:7240710
RGD:8554872
RGD:11251781

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Term Annotations click to browse term
  disease 15625
    Nutritional and Metabolic Diseases 4375
      disease of metabolism 4375
        DNA Repair-Deficiency Disorders 202
          Fanconi anemia 43
            Fanconi anemia complementation group J 1
Path 2
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      Hemic and Lymphatic Diseases 1722
        hematopoietic system disease 1450
          anemia 376
            aplastic anemia 150
              congenital hypoplastic anemia 104
                Fanconi anemia 43
                  Fanconi anemia complementation group J 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.