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:Cutaneous Telangiectasia and Cancer Syndrome, Familial
go back to main search page
Accession:DOID:9002856 term browser browse the term
Synonyms:exact_synonym: FCTCS
 primary_id: OMIM:614564;   RDO:9000258
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Cutaneous Telangiectasia and Cancer Syndrome, Familial term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atr ATR serine/threonine kinase ISO ClinVar Annotator: match by OMIM:614564 OMIM
ClinVar
PMID:22341969 NCBI chr 8:96,426,704...96,524,152
Ensembl chr 8:96,426,724...96,524,136
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    disease of cellular proliferation 7054
      Cutaneous Telangiectasia and Cancer Syndrome, Familial 1
Path 2
Term Annotations click to browse term
  disease 17286
    disease of anatomical entity 16621
      nervous system disease 12148
        sensory system disease 5678
          skin disease 2992
            hair disease 256
              hypotrichosis 129
                alopecia 92
                  Cutaneous Telangiectasia and Cancer Syndrome, Familial 1
paths to the root