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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:CREST syndrome
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Accession:DOID:0060218 term browser browse the term
Definition:A syndrome characterized by calcinosis, Raynaud's phenomeno, esophageal dysmotility, sclerodactyly and telangiectasia. (DO)
Synonyms:exact_synonym: CREST syndromes;   CRST Syndrome;   CRST syndromes;   Calcinosis Raynaud Phenomenon Sclerodactyly Telangiectasia;   Calcinosis, Raynaud's phenomenon, Esophageal dismobility, Sclerodactyly, Telangiectasia Syndrome
 primary_id: MESH:D017675
 xref: GARD:12430;   ICD10CM:M34.1;   NCI:C70646


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CREST syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpc centromere protein C ISO associated with Anticentromere antibody positivity RGD PMID:25220385 RGD:27372886 NCBI chr14:21,988,067...22,046,732
Ensembl chr14:21,988,144...22,055,476 		JBrowse link
G Fbn1 fibrillin 1 ISO RGD PMID:10395706 RGD:12910471 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10832
      CREST syndrome 2
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      Immune & Inflammatory Diseases 5564
        immune system disease 4771
          primary immunodeficiency disease 4144
            autoimmune disease 2319
              autoimmune disease of musculoskeletal system 994
                rheumatic disease 782
                  scleroderma 123
                    systemic scleroderma 115
                      limited scleroderma 14
                        CREST syndrome 2
paths to the root