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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 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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      Robinow Sorauf Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      Skin and Connective Tissue Diseases 5474
        connective tissue disease 4073
          bone disease 3528
            bone development disease 1330
              dysostosis 342
                synostosis 229
                  craniosynostosis 176
                    acrocephalosyndactylia 8
                      Robinow Sorauf Syndrome 1
paths to the root

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