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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 U
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Accession:DOID:0111085 term browser browse the term
Definition:A Fanconi anemia that has_material_basis_in homozygous mutation in the XRCC2 gene on chromosome 7q36. (DO)
Synonyms:exact_synonym: FANCU;   Fanconi anemia of complementation group U
 primary_id: OMIM:617247
 alt_id: RDO:9002145
For additional species annotation, visit the Alliance of Genome Resources.


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Fanconi anemia complementation group U term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xrcc2 X-ray repair cross complementing 2 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group U OMIM
ClinVar
PMID:11118202 PMID:20189471 PMID:22232082 PMID:22464251 PMID:23054243 PMID:25637381 PMID:25741868 PMID:26046366 PMID:26689913 PMID:26845104 PMID:27208205 PMID:27233470 PMID:28486781 PMID:28492532 PMID:28767289 PMID:32860008 NCBI chr 4:5,842,013...5,860,516
Ensembl chr 4:5,841,998...5,860,527
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    physical disorder 2526
      congenital hypoplastic anemia 109
        Fanconi anemia 43
          Fanconi anemia complementation group U 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      Hemic and Lymphatic Diseases 2075
        hematopoietic system disease 1659
          bone marrow disease 480
            Bone Marrow Failure Disorders 169
              aplastic anemia 157
                congenital hypoplastic anemia 109
                  Fanconi anemia 43
                    Fanconi anemia complementation group U 1
paths to the root