Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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 O
go back to main search page
Accession:DOID:0111096 term browser browse the term
Definition:A Fanconi anemia that has_material_basis_in homozygous mutation in the RAD51C gene on chromosome 17q21-q24. (DO)
Synonyms:exact_synonym: FANCO
 primary_id: OMIM:613390
 alt_id: RDO:0015803
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Fanconi anemia complementation group O term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rad51c RAD51 paralog C ISO ClinVar Annotator: match by OMIM:613390
ClinVar Annotator: match by term: Fanconi anemia, complementation group O
OMIM
ClinVar
PMID:12442171 PMID:12966089 PMID:14704354 PMID:15126333 PMID:15170666 PMID:18203022 PMID:20052722 PMID:20400963 PMID:20400964 PMID:20697805 PMID:20723205 PMID:20952512 PMID:21447597 PMID:21537932 PMID:21597919 PMID:21616938 PMID:21750962 PMID:21980511 PMID:21990120 PMID:22006311 PMID:22167183 PMID:22370629 PMID:22451500 PMID:22476429 PMID:22538716 PMID:22725699 PMID:22810696 PMID:23117857 PMID:23176254 PMID:23500037 PMID:23704328 PMID:24082139 PMID:24139550 PMID:24141787 PMID:24240112 PMID:24315737 PMID:24359560 PMID:24504028 PMID:24549055 PMID:24631219 PMID:24763404 PMID:24800917 PMID:24993905 PMID:24998779 PMID:25086635 PMID:25154786 PMID:25186627 PMID:25292178 PMID:25318351 PMID:25338684 PMID:25452441 PMID:25470109 PMID:25525159 PMID:25741868 PMID:25833843 PMID:25980754 PMID:26057125 PMID:26103414 PMID:26261251 PMID:26270727 PMID:26354865 PMID:26406419 PMID:26467025 PMID:26483394 PMID:26556299 PMID:26580448 PMID:26681312 PMID:26687385 PMID:26689913 PMID:26691941 PMID:26720728 PMID:26740214 PMID:26822949 PMID:26824983 PMID:26845104 PMID:26848151 PMID:26976419 PMID:27037238 PMID:27149507 PMID:27149842 PMID:27153395 PMID:27230542 PMID:27328445 PMID:27433846 PMID:27443514 PMID:27616075 PMID:27621404 PMID:27622768 PMID:27852271 PMID:27878467 PMID:27913932 PMID:27978560 PMID:28123851 PMID:28135145 PMID:28152038 PMID:28202063 PMID:28281021 PMID:28492532 PMID:28528518 PMID:28588062 PMID:28678401 PMID:28709830 PMID:28767289 PMID:28802053 PMID:28829762 PMID:28864920 PMID:28873162 PMID:28905878 PMID:28975465 PMID:29020732 PMID:29053726 PMID:29054568 PMID:29158291 PMID:29255180 PMID:29278735 PMID:29360161 PMID:29409816 PMID:29458332 PMID:29470806 PMID:29522266 PMID:29566657 PMID:29641532 PMID:29659569 PMID:29752822 PMID:29785153 PMID:29858219 PMID:29922827 PMID:29978187 PMID:30086788 PMID:30093976 PMID:30128536 PMID:30257646 PMID:30309722 PMID:30322717 PMID:30374176 PMID:30426508 PMID:30551670 PMID:30924587 PMID:30927251 PMID:30949688 PMID:30995915 PMID:31159747 PMID:31173646 PMID:31300551 PMID:31422574 PMID:31742824 PMID:31843900 PMID:32295079 PMID:32566746 NCBI chr10:74,697,713...74,724,004
Ensembl chr10:74,697,716...74,724,472
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    physical disorder 2462
      congenital hypoplastic anemia 110
        Fanconi anemia 43
          Fanconi anemia complementation group O 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      Hemic and Lymphatic Diseases 2059
        hematopoietic system disease 1642
          bone marrow disease 481
            Bone Marrow Failure Disorders 170
              aplastic anemia 158
                congenital hypoplastic anemia 110
                  Fanconi anemia 43
                    Fanconi anemia complementation group O 1
paths to the root