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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:24808016, PMID:25741868, PMID:25813273, 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 16058
    Nutritional and Metabolic Diseases 4725
      disease of metabolism 4725
        DNA Repair-Deficiency Disorders 258
          Fanconi anemia 43
            Fanconi anemia complementation group R 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Hemic and Lymphatic Diseases 2053
        hematopoietic system disease 1646
          bone marrow disease 473
            Bone Marrow Failure Disorders 163
              aplastic anemia 151
                congenital hypoplastic anemia 107
                  Fanconi anemia 43
                    Fanconi anemia complementation group R 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.