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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 T
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Accession:DOID:0111081 term browser browse the term
Definition:A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the UBE2T gene on chromosome 1q32. (DO)
Synonyms:exact_synonym: FANCT;   Fanconi anemia of complementation group T
 primary_id: OMIM:616435
 alt_id: RDO:9001355
For additional species annotation, visit the Alliance of Genome Resources.


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Fanconi anemia complementation group T term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ube2t ubiquitin-conjugating enzyme E2T ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group t
ClinVar Annotator: match by term: Fanconi anemia, complementation group T
ClinVar
OMIM
PMID:26046368, PMID:26119737 NCBI chr13:51,790,877...51,801,379
Ensembl chr13:51,795,867...51,801,163
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        DNA Repair-Deficiency Disorders 258
          Fanconi anemia 43
            Fanconi anemia complementation group T 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      Hemic and Lymphatic Diseases 2045
        hematopoietic system disease 1641
          bone marrow disease 473
            Bone Marrow Failure Disorders 162
              aplastic anemia 150
                congenital hypoplastic anemia 107
                  Fanconi anemia 43
                    Fanconi anemia complementation group T 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.