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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 ClinVar Annotator: match by term: Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development | ClinVar Annotator: match by term: Curry-Jones syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3144990 PMID:7606318 PMID:16531740 PMID:18798318 PMID:24728327 More... NCBI chr 4:59,311,084...59,341,280
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 19139
    syndrome 11404
      Winter Shortland Temple Syndrome 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      musculoskeletal system disease 8462
        connective tissue disease 5919
          bone disease 4369
            bone development disease 2387
              dysostosis 639
                synostosis 402
                  syndactyly 152
                    Winter Shortland Temple Syndrome 1
paths to the root