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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 C
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Accession:DOID:0111087 term browser browse the term
Definition:A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCC gene on chromosome 9q22. (DO)
Synonyms:exact_synonym: FA3;   FAC;   FACC;   FANCC;   FANCONI ANEMIA, GROUP C;   FANCONI PANCYTOPENIA, TYPE 3
 primary_id: OMIM:227645
 xref: NCI:C125704
For additional species annotation, visit the Alliance of Genome Resources.



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Fanconi anemia complementation group C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aopep aminopeptidase O ISO ClinVar Annotator: match by term: Fanconi anemia complementation group C ClinVar PMID:1574115 PMID:1641028 PMID:7689011 PMID:08103176 PMID:08128956 More... NCBI chr17:1,811,922...2,127,316
Ensembl chr17:1,811,980...2,127,331
JBrowse link
G Fancc FA complementation group C ISO ClinVar Annotator: match by term: Fanconi anemia complementation group C OMIM
ClinVar
PMID:1574115 PMID:1641028 PMID:7492758 PMID:7689011 PMID:8081385 More... NCBI chr17:1,680,660...1,822,610
Ensembl chr17:1,681,324...1,829,376
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    physical disorder 4194
      congenital hypoplastic anemia 295
        Fanconi anemia 222
          Fanconi anemia complementation group C 2
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      Hemic and Lymphatic Diseases 3313
        hematopoietic system disease 2848
          bone marrow disease 794
            Bone Marrow Failure Disorders 356
              aplastic anemia 344
                congenital hypoplastic anemia 295
                  Fanconi anemia 222
                    Fanconi anemia complementation group C 2
paths to the root