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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;   ICD10CM:M34.1;   NCI:C70646
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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15489
    syndrome 5228
      CREST syndrome 1
Path 2
Term Annotations click to browse term
  disease 15489
    disease of anatomical entity 14790
      Immune & Inflammatory Diseases 3125
        immune system disease 2543
          Autoimmune Diseases 1482
            autoimmune hypersensitivity disease 1198
              autoimmune disease of musculoskeletal system 838
                rheumatic disease 826
                  scleroderma 115
                    systemic scleroderma 108
                      limited scleroderma 13
                        CREST syndrome 1
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