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ONTOLOGY REPORT - ANNOTATIONS


Term:Fanconi anemia complementation group L
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Accession:DOID:0111082 term browser browse the term
Definition:A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PHF9 gene on chromosome 2p16. (DO)
Synonyms:exact_synonym: FANCL
 primary_id: OMIM:614083
 alt_id: RDO:9000302
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Fanconi anemia complementation group L term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fancl FA complementation group L JBrowse link 14 110,675,306 110,740,880 RGD:7240710
RGD:8554872
G Vrk2 VRK serine/threonine kinase 2 JBrowse link 14 110,739,835 110,883,836 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        DNA Repair-Deficiency Disorders 202
          Fanconi anemia 43
            Fanconi anemia complementation group L 2
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      Hemic and Lymphatic Diseases 1723
        hematopoietic system disease 1451
          bone marrow disease 402
            aplastic anemia 150
              congenital hypoplastic anemia 104
                Fanconi anemia 43
                  Fanconi anemia complementation group L 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.