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 16058
    syndrome 6996
      Winter Shortland Temple Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Skin and Connective Tissue Diseases 5474
        connective tissue disease 4099
          bone disease 3528
            bone development disease 1335
              dysostosis 342
                synostosis 229
                  syndactyly 58
                    Winter Shortland Temple Syndrome 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.