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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: OMIM: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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10832
      Winter Shortland Temple Syndrome 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      musculoskeletal system disease 8271
        connective tissue disease 5757
          bone disease 4270
            bone development disease 2303
              dysostosis 576
                synostosis 375
                  syndactyly 147
                    Winter Shortland Temple Syndrome 1
paths to the root