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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 F
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Accession:DOID:0111088 term browser browse the term
Definition:A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCF gene on chromosome 11p15. (DO)
Synonyms:exact_synonym: FANCF
 primary_id: OMIM:603467
 xref: EFO:0009045;   NCI:C125707


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Fanconi anemia complementation group F term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancf FA complementation group F ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia complementation group F		 OMIM
CTD
ClinVar		 PMID:9382107 PMID:10615118 PMID:11063725 PMID:12649160 PMID:15262960 More... NCBI chr 1:101,449,120...101,451,936
Ensembl chr 1:101,450,389...101,451,923 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    physical disorder 4964
      congenital hypoplastic anemia 240
        Fanconi anemia 83
          Fanconi anemia complementation group F 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      Hemic and Lymphatic Diseases 3852
        hematopoietic system disease 3341
          anemia 786
            normocytic anemia 679
              aplastic anemia 288
                congenital hypoplastic anemia 240
                  Fanconi anemia 83
                    Fanconi anemia complementation group F 1
paths to the root