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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 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
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 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 17427
    syndrome 8258
      CREST syndrome 2
Path 2
Term Annotations click to browse term
  disease 17427
    disease of anatomical entity 16758
      Immune & Inflammatory Diseases 4046
        immune system disease 3405
          primary immunodeficiency disease 2728
            autoimmune disease 1855
              autoimmune disease of musculoskeletal system 958
                rheumatic disease 746
                  scleroderma 118
                    systemic scleroderma 111
                      limited scleroderma 14
                        CREST syndrome 2
paths to the root