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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 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
 xref: NCI:C164677


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    physical disorder 4965
      congenital hypoplastic anemia 240
        Fanconi anemia 83
          Fanconi anemia complementation group L 2
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Hemic and Lymphatic Diseases 3849
        hematopoietic system disease 3339
          anemia 786
            normocytic anemia 679
              aplastic anemia 288
                congenital hypoplastic anemia 240
                  Fanconi anemia 83
                    Fanconi anemia complementation group L 2
paths to the root