Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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


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 | 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 8:96,426,724...96,524,136 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    disease of cellular proliferation 7892
      Cutaneous Telangiectasia and Cancer Syndrome, Familial 1
Path 2
Term Annotations click to browse term
  disease 19139
    Pathological Conditions, Signs and Symptoms 13625
      Signs and Symptoms 11221
        Neurologic Manifestations 10463
          sensory system disease 7383
            skin disease 4322
              hair disease 331
                hypotrichosis 150
                  alopecia 95
                    Cutaneous Telangiectasia and Cancer Syndrome, Familial 1
paths to the root