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 14875
    syndrome 4220
      CREST syndrome 1
Path 2
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  disease 14875
    disease of anatomical entity 14051
      Immune & Inflammatory Diseases 2988
        immune system disease 2414
          Autoimmune Diseases 1447
            autoimmune hypersensitivity disease 1162
              autoimmune disease of musculoskeletal system 814
                rheumatic disease 801
                  scleroderma 111
                    systemic scleroderma 104
                      limited scleroderma 13
                        CREST syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.