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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:Cutaneous Telangiectasia and Cancer Syndrome, Familial
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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.


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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 8:103,673,578...103,770,886
Ensembl chr 8:103,673,411...103,770,947
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of cellular proliferation 5918
      Cutaneous Telangiectasia and Cancer Syndrome, Familial 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          skin disease 2765
            hair disease 266
              hypotrichosis 127
                alopecia 93
                  Cutaneous Telangiectasia and Cancer Syndrome, Familial 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.