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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 G
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Accession:DOID:0111086 term browser browse the term
Definition:A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the XRCC9 gene on chromosome 9p13. (DO)
Synonyms:exact_synonym: FANCG
 primary_id: OMIM:614082
 xref: EFO:0009046;   NCI:C125708


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    physical disorder 4824
      congenital hypoplastic anemia 222
        Fanconi anemia 80
          Fanconi anemia complementation group G 2
Path 2
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      Hemic and Lymphatic Diseases 3611
        hematopoietic system disease 3134
          bone marrow disease 718
            Bone Marrow Failure Disorders 290
              aplastic anemia 264
                congenital hypoplastic anemia 222
                  Fanconi anemia 80
                    Fanconi anemia complementation group G 2
paths to the root