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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 chrNW_004955447:5,345,617...5,406,889
Ensembl chrNW_004955447:5,345,896...5,406,730
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G Fbn1 fibrillin 1 ISO RGD PMID:10395706 RGD:12910471 NCBI chrNW_004955409:5,281,603...5,502,547
Ensembl chrNW_004955409:5,281,603...5,504,761
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13435
    syndrome 8202
      CREST syndrome 2
Path 2
Term Annotations click to browse term
  disease 13435
    disease of anatomical entity 13169
      Immune & Inflammatory Diseases 4239
        immune system disease 3741
          primary immunodeficiency disease 3173
            autoimmune disease 1791
              autoimmune disease of musculoskeletal system 765
                rheumatic disease 600
                  scleroderma 101
                    systemic scleroderma 95
                      limited scleroderma 13
                        CREST syndrome 2
paths to the root