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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


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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: Cutaneous telangiectasia and cancer syndrome, familial
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 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 21118
    disease of cellular proliferation 7653
      Cutaneous Telangiectasia and Cancer Syndrome, Familial 1
Path 2
Term Annotations click to browse term
  disease 21118
    Pathological Conditions, Signs and Symptoms 13262
      Signs and Symptoms 10744
        Neurologic Manifestations 9982
          sensory system disease 6883
            skin disease 3905
              hair disease 282
                hypotrichosis 146
                  alopecia 92
                    Cutaneous Telangiectasia and Cancer Syndrome, Familial 1
paths to the root