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ONTOLOGY REPORT - ANNOTATIONS


Term:CREST syndrome
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Accession:DOID:0060218 term browser browse the term
Definition:A mild form of LIMITED SCLERODERMA, a multi-system disorder. Its features include symptoms of CALCINOSIS; RAYNAUD DISEASE; ESOPHAGEAL MOTILITY DISORDERS; sclerodactyly, and TELANGIECTASIS. When the defect in esophageal function is not prominent, it is known as CRST syndrome.
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;   RDO:0007064
 xref: GARD:12430
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CREST syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:12910471

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Path 1
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  disease 14759
    syndrome 4210
      CREST syndrome 1
Path 2
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  disease 14759
    disease of anatomical entity 13978
      Immune & Inflammatory Diseases 2999
        immune system disease 2432
          Autoimmune Diseases 1474
            autoimmune hypersensitivity disease 1195
              autoimmune disease of musculoskeletal system 812
                rheumatic disease 799
                  scleroderma 110
                    systemic scleroderma 104
                      limited scleroderma 13
                        CREST syndrome 1
paths to the root