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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:Robinow Sorauf Syndrome
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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


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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 term: Acrocephalosyndactyly, Robinow-Sorauf type | ClinVar Annotator: match by term: Robinow-Sorauf syndrome OMIM
ClinVar		 PMID:1240778 PMID:10465122 PMID:10749989 PMID:12791045 PMID:16251895 More... NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21086
    syndrome 10782
      Robinow Sorauf Syndrome 1
Path 2
Term Annotations click to browse term
  disease 21086
    disease of anatomical entity 18146
      Skin and Connective Tissue Diseases 7364
        connective tissue disease 5724
          bone disease 4226
            bone development disease 2299
              dysostosis 570
                synostosis 377
                  craniosynostosis 317
                    acrocephalosyndactylia 99
                      Robinow Sorauf Syndrome 1
paths to the root