Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
Accession:DOID:9007790 term browser browse the term
Synonyms:exact_synonym: CRJS;   Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development;   Curry Jones syndrome
 primary_id: MESH:C536735;   RDO:0002401
 alt_id: OMIM:601707
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 OMIM
ClinVar
PMID:3144990 PMID:7606318 PMID:16531740 PMID:18798318 PMID:24728327 PMID:25741868 PMID:27236920 NCBI chr 4:57,019,941...57,041,779
Ensembl chr 4:57,019,941...57,042,770
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      Winter Shortland Temple Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      Skin and Connective Tissue Diseases 5431
        connective tissue disease 4137
          bone disease 3507
            bone development disease 1307
              dysostosis 337
                synostosis 227
                  syndactyly 59
                    Winter Shortland Temple Syndrome 1
paths to the root