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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;   familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
 broad_synonym: ATR-RELATED CONDITION
 xref: MIM:614564;   MONDO:0013806;   ORDO:313846


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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 term: Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome OMIM
ClinVar		 PMID:9536098 PMID:15987455 PMID:17010193 PMID:17576681 PMID:18414213 More... NCBI chr 8:105,306,299...105,403,742
Ensembl chr 8:105,306,305...105,403,718 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    disease of cellular proliferation 5586
      Cutaneous Telangiectasia and Cancer Syndrome, Familial 1
Path 2
Term Annotations click to browse term
  disease 14566
    Pathological Conditions, Signs and Symptoms 9149
      Signs and Symptoms 6804
        Neurologic Manifestations 5934
          sensory system disease 4800
            skin disease 2824
              hair disease 200
                hypotrichosis 128
                  alopecia 89
                    Cutaneous Telangiectasia and Cancer Syndrome, Familial 1
paths to the root