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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:Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly
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Accession:DOID:9002247 term browser browse the term
Synonyms:exact_synonym: Dauwerse Peters Syndrome
 primary_id: MESH:C567093
 alt_id: OMIM:611733

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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14195
    Pathological Conditions, Signs and Symptoms 11062
      Pathologic Processes 6876
        Growth Disorders 950
          Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 0
Path 2
Term Annotations click to browse term
  disease 14195
    disease of anatomical entity 13850
      Skin and Connective Tissue Diseases 6347
        connective tissue disease 4941
          bone disease 3625
            bone development disease 2153
              dysostosis 536
                synostosis 351
                  syndactyly 137
                    Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 0
paths to the root