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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
 alt_id: RDO:0015797
 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 OMIM:600901
ClinVar Annotator: match by term: Fanconi anemia, complementation group E		 OMIM
ClinVar		 PMID:7662964 PMID:9382107 PMID:10205272 PMID:11001585 PMID:14695169 PMID:15609317 PMID:16774934 PMID:17308347 PMID:17924555 PMID:18271933 PMID:21279724 PMID:22778927 PMID:24033266 PMID:24728327 PMID:25058500 PMID:25741868 PMID:26822949 PMID:27165003 PMID:28492532 PMID:28678401 PMID:30609409 NCBI chr20:7,888,927...7,906,142
Ensembl chr20:7,895,083...7,906,142 		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 E 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 E 1
paths to the root