Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP 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:autosomal recessive dyskeratosis congenita 3
go back to main search page
Accession:DOID:0070019 term browser browse the term
Definition:A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of WRAP53 on chromosome 17p13.1. (DO)
Synonyms:exact_synonym: DKCB3
 primary_id: OMIM:613988
 alt_id: RDO:9000277
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
autosomal recessive dyskeratosis congenita 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive, 3 ClinVar PMID:17683073, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chrNW_004936595:919,807...935,367 JBrowse link
G Wrap53 WD repeat containing antisense to TP53 ISO OMIM NCBI chrNW_004936595:936,184...952,784 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11943
    sensory system disease 4609
      skin disease 2414
        Genetic Skin Diseases 802
          dyskeratosis congenita 99
            Autosomal Recessive Dyskeratosis Congenita 13
              autosomal recessive dyskeratosis congenita 3 2
Path 2
Term Annotations click to browse term
  disease 11943
    disease of anatomical entity 11504
      nervous system disease 9435
        sensory system disease 4609
          skin disease 2414
            Skin Abnormalities 611
              dyskeratosis congenita 99
                Autosomal Recessive Dyskeratosis Congenita 13
                  autosomal recessive dyskeratosis congenita 3 2
paths to the root

NHLBI Logo

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