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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 E
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Accession:DOID:0111084 term browser browse the term
Definition:A Fanconi anemia that has_material_basis_in homozygous mutation in the FANCE gene on chromosome 6p22-p21. (DO)
Synonyms:exact_synonym: FACE;   FANCE;   FANCE-RELATED CONDITION
 primary_id: MIM:600901
 xref: NCI:C125709


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    physical disorder 5216
      congenital hypoplastic anemia 304
        Fanconi anemia 108
          Fanconi anemia complementation group E 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      Hemic and Lymphatic Diseases 4332
        hematopoietic system disease 3839
          anemia 865
            normocytic anemia 756
              aplastic anemia 352
                congenital hypoplastic anemia 304
                  Fanconi anemia 108
                    Fanconi anemia complementation group E 1
paths to the root