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:Robinow Sorauf Syndrome
go back to main search page
Accession:DOID:9001080 term browser browse the term
Synonyms:exact_synonym: acrocephalosyndactyly, Robinow-Sorauf type;   craniosynostosis-bifid hallux syndrome
 primary_id: MESH:C537183
 alt_id: OMIM:180750
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Robinow Sorauf Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Twist1 twist family bHLH transcription factor 1 ISO ClinVar Annotator: match by OMIM:180750
ClinVar Annotator: match by term: Robinow-Sorauf syndrome
OMIM
ClinVar
PMID:1240778 PMID:10465122 PMID:12791045 PMID:16251895 PMID:18391498 PMID:28492532 NCBI chr 6:53,401,241...53,403,235
Ensembl chr 6:53,401,109...53,403,214
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      Robinow Sorauf Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      Skin and Connective Tissue Diseases 5492
        connective tissue disease 4166
          bone disease 3538
            bone development disease 1344
              dysostosis 342
                synostosis 228
                  craniosynostosis 175
                    acrocephalosyndactylia 8
                      Robinow Sorauf Syndrome 1
paths to the root