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Fanconi anemia complementation group R - Ontology Report - Rat Genome Database

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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: MIM:617244

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Fanconi anemia complementation group R term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Rad51 RAD51 recombinase susceptibility ISO ClinVar Annotator: match by term: Fanconi anemia complementation group R ClinVar
OMIM		 PMID:15908697 PMID:25741868 PMID:26253028 PMID:26681308 PMID:36474027 NCBI chrNW_004624804:7,957,175...7,983,078
Ensembl chrNW_004624804:7,957,253...7,983,619 		JBrowse link
G G RAD51 RAD51 recombinase susceptibility ISO ClinVar Annotator: match by term: Fanconi anemia complementation group R ClinVar
OMIM		 PMID:15908697 PMID:25741868 PMID:26253028 PMID:26681308 PMID:36474027 NCBI chr26:42,281,085...42,319,394
Ensembl chr26:42,279,608...42,318,169 		JBrowse link
G P RAD51 RAD51 recombinase susceptibility ISO ClinVar Annotator: match by term: Fanconi anemia complementation group R ClinVar
OMIM		 PMID:15908697 PMID:25741868 PMID:26253028 PMID:26681308 PMID:36474027 NCBI chr 1:130,592,414...130,640,326
Ensembl chr 1:130,586,665...130,640,136 		JBrowse link
G S Rad51 RAD51 recombinase susceptibility ISO ClinVar Annotator: match by term: Fanconi anemia complementation group R ClinVar
OMIM		 PMID:15908697 PMID:25741868 PMID:26253028 PMID:26681308 PMID:36474027 NCBI chrNW_004936471:4,119,020...4,136,811
Ensembl chrNW_004936471:4,114,530...4,136,248 		JBrowse link
G D RAD51 RAD51 recombinase susceptibility ISO ClinVar Annotator: match by term: Fanconi anemia complementation group R ClinVar
OMIM		 PMID:15908697 PMID:25741868 PMID:26253028 PMID:26681308 PMID:36474027 NCBI chr30:7,842,540...7,877,128
Ensembl chr30:7,842,540...7,877,606 		JBrowse link
G B RAD51 RAD51 recombinase susceptibility ISO ClinVar Annotator: match by term: Fanconi anemia complementation group R ClinVar
OMIM		 PMID:15908697 PMID:25741868 PMID:26253028 PMID:26681308 PMID:36474027 NCBI chr15:19,638,310...19,672,474
Ensembl chr15:37,891,056...37,925,207 		JBrowse link
G C Rad51 RAD51 recombinase susceptibility ISO ClinVar Annotator: match by term: Fanconi anemia complementation group R ClinVar
OMIM		 PMID:15908697 PMID:25741868 PMID:26253028 PMID:26681308 PMID:36474027 NCBI chrNW_004955416:7,566,715...7,590,628
Ensembl chrNW_004955416:7,566,686...7,590,628 		JBrowse link
G R Rad51 RAD51 recombinase susceptibility ISO ClinVar Annotator: match by term: Fanconi anemia complementation group R ClinVar
OMIM		 PMID:15908697 PMID:25741868 PMID:26253028 PMID:26681308 PMID:36474027 NCBI chr 3:126,554,210...126,578,888
Ensembl chr 3:106,100,381...106,125,035 		JBrowse link
G M Rad51 RAD51 recombinase susceptibility ISO ClinVar Annotator: match by term: Fanconi anemia complementation group R ClinVar
OMIM		 PMID:15908697 PMID:25741868 PMID:26253028 PMID:26681308 PMID:36474027 NCBI chr 2:118,943,295...118,966,554
Ensembl chr 2:118,943,274...118,977,926 		JBrowse link
G H RAD51 RAD51 recombinase susceptibility IAGP ClinVar Annotator: match by term: Fanconi anemia complementation group R ClinVar
OMIM		 PMID:15908697 PMID:25741868 PMID:26253028 PMID:26681308 PMID:36474027 NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    physical disorder 54044
      congenital hypoplastic anemia 3133
        Fanconi anemia 1129
          Fanconi anemia complementation group R 10
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      Hemic and Lymphatic Diseases 46557
        hematopoietic system disease 41379
          anemia 8850
            normocytic anemia 7755
              aplastic anemia 3582
                congenital hypoplastic anemia 3133
                  Fanconi anemia 1129
                    Fanconi anemia complementation group R 10
paths to the root