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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 R
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Accession:DOID:0111090 term browser browse the term
Definition:A Fanconi anemia that has_material_basis_in heterozygous mutation in the RAD51 gene on chromosome 15q15. (DO)
Synonyms:exact_synonym: FANCR;   Fanconi anemia of complementation group R
 primary_id: OMIM:617244
For additional species annotation, visit the Alliance of Genome Resources.


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Fanconi anemia complementation group R term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rad51 RAD51 recombinase ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group R ClinVar
OMIM
PMID:15908697 PMID:25741868 PMID:26253028 PMID:26681308 NCBI chr 3:110,918,240...110,942,920
Ensembl chr 3:110,918,243...110,942,917
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    physical disorder 3071
      congenital hypoplastic anemia 116
        Fanconi anemia 48
          Fanconi anemia complementation group R 1
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      Hemic and Lymphatic Diseases 2218
        hematopoietic system disease 1797
          bone marrow disease 488
            Bone Marrow Failure Disorders 176
              aplastic anemia 164
                congenital hypoplastic anemia 116
                  Fanconi anemia 48
                    Fanconi anemia complementation group R 1
paths to the root