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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.


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 term: Cutaneous telangiectasia and cancer syndrome, familial OMIM
ClinVar		 PMID:9536098 PMID:15987455 PMID:17010193 PMID:17576681 PMID:18414213 More... 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 20988
    disease of cellular proliferation 7640
      Cutaneous Telangiectasia and Cancer Syndrome, Familial 1
Path 2
Term Annotations click to browse term
  disease 20988
    Pathological Conditions, Signs and Symptoms 13308
      Signs and Symptoms 10864
        Neurologic Manifestations 10112
          sensory system disease 7132
            skin disease 4324
              hair disease 278
                hypotrichosis 142
                  alopecia 91
                    Cutaneous Telangiectasia and Cancer Syndrome, Familial 1
paths to the root