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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 E
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Accession:DOID:0111084 term browser browse the term
Definition:A Fanconi anemia that has_material_basis_in homozygous mutation in the FANCE gene on chromosome 6p22-p21. (DO)
Synonyms:exact_synonym: FACE;   FANCE
 primary_id: OMIM:600901
 xref: NCI:C125709
For additional species annotation, visit the Alliance of Genome Resources.


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Fanconi anemia complementation group E term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fance FA complementation group E ISO ClinVar Annotator: match by term: Fanconi anemia complementation group E OMIM
ClinVar		 PMID:7662964 PMID:9382107 PMID:9536098 PMID:10205272 PMID:11001585 More... NCBI chr20:6,369,416...6,386,631
Ensembl chr20:6,375,573...6,386,631 		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 E 1
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 E 1
paths to the root