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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:Winter Shortland Temple Syndrome
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Accession:DOID:9007790 term browser browse the term
Synonyms:exact_synonym: CRJS;   Curry Jones syndrome;   asymmetric craniofacial malformations with polysyndactyly and abnormal skin and gut development
 primary_id: MESH:C536735
 alt_id: MIM:601707


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Winter Shortland Temple Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smo smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development | ClinVar Annotator: match by term: Curry-Jones syndrome		 OMIM
CTD
ClinVar		 PMID:3144990 PMID:7606318 PMID:16531740 PMID:18798318 PMID:24728327 More... NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    syndrome 11271
      Winter Shortland Temple Syndrome 1
Path 2
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      musculoskeletal system disease 8492
        connective tissue disease 5960
          bone disease 4413
            bone development disease 2373
              dysostosis 632
                synostosis 397
                  syndactyly 151
                    Winter Shortland Temple Syndrome 1
paths to the root