Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Fanconi anemia complementation group T term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lgr6 leucine-rich repeat-containing G protein-coupled receptor 6 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group T ClinVar PMID:26046368 NCBI chr13:46,424,382...46,544,074
Ensembl chr13:46,424,383...46,543,945
JBrowse link
G Ube2t ubiquitin-conjugating enzyme E2T ISO ClinVar Annotator: match by term: Fanconi anemia complementation group T OMIM
ClinVar
PMID:25741868 PMID:26046368 PMID:26119737 NCBI chr13:46,403,352...46,413,854
Ensembl chr13:46,403,375...46,414,835
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 T 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 T 2
paths to the root