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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 O
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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
 broad_synonym: RAD51C-RELATED CONDITION
 primary_id: MIM:613390

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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 Hsf5 heat shock transcription factor 5 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group O ClinVar PMID:28492532 NCBI chrNW_004955451:4,564,576...4,601,868
Ensembl chrNW_004955451:4,563,770...4,599,720 		JBrowse link
G Mtmr4 myotubularin related protein 4 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group O ClinVar PMID:28492532 NCBI chrNW_004955451:4,531,966...4,557,528
Ensembl chrNW_004955451:4,532,295...4,558,225 		JBrowse link
G Rad51c RAD51 paralog C ISO ClinVar Annotator: match by term: Fanconi anemia complementation group O | ClinVar Annotator: match by term: RAD51C-related condition ClinVar
OMIM		 PMID:122156 PMID:1241858 PMID:1731253 PMID:2159791 PMID:2927873 More... NCBI chrNW_004955451:4,053,195...4,178,226
Ensembl chrNW_004955451:4,145,226...4,178,487 		JBrowse link
G Rnf43 ring finger protein 43 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group O ClinVar PMID:28492532 NCBI chrNW_004955451:4,604,985...4,680,762
Ensembl chrNW_004955451:4,604,985...4,680,762 		JBrowse link
G Septin4 septin 4 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group O ClinVar PMID:28492532 NCBI chrNW_004955451:4,505,318...4,530,387 JBrowse link
G Tex14 testis expressed 14, intercellular bridge forming factor ISO ClinVar Annotator: match by term: Fanconi anemia complementation group O ClinVar PMID:28492532 NCBI chrNW_004955451:4,206,114...4,296,969
Ensembl chrNW_004955451:4,179,591...4,297,024 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14337
    physical disorder 4831
      congenital hypoplastic anemia 279
        Fanconi anemia 104
          Fanconi anemia complementation group O 6
Path 2
Term Annotations click to browse term
  disease 14337
    disease of anatomical entity 14030
      Hemic and Lymphatic Diseases 3817
        hematopoietic system disease 3386
          anemia 767
            normocytic anemia 670
              aplastic anemia 318
                congenital hypoplastic anemia 279
                  Fanconi anemia 104
                    Fanconi anemia complementation group O 6
paths to the root