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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 D2
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Accession:DOID:0111083 term browser browse the term
Definition:A Fanconi anemia that has_material_basis_in compound heterozygous or homozygous mutation in the FANCD2 gene on chromosome 3p25. (DO)
Synonyms:exact_synonym: FA4;   FACD;   FAD2;   FANCD;   FANCD2;   Fanconi anemia, complementation group D;   Fanconi pancytopenia, type 4
 primary_id: OMIM:227646
 xref: NCI:C125706


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    physical disorder 4919
      congenital hypoplastic anemia 234
        Fanconi anemia 82
          Fanconi anemia complementation group D2 2
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15262
      Hemic and Lymphatic Diseases 3708
        hematopoietic system disease 3225
          bone marrow disease 741
            Bone Marrow Failure Disorders 301
              aplastic anemia 275
                congenital hypoplastic anemia 234
                  Fanconi anemia 82
                    Fanconi anemia complementation group D2 2
paths to the root