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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
For additional species annotation, visit the Alliance of Genome Resources.



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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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    syndrome 9456
      Robinow Sorauf Syndrome 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      Skin and Connective Tissue Diseases 6546
        connective tissue disease 4900
          bone disease 3578
            bone development disease 1760
              dysostosis 436
                synostosis 273
                  craniosynostosis 219
                    acrocephalosyndactylia 8
                      Robinow Sorauf Syndrome 1
paths to the root