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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:Pfeiffer Rockelein Syndrome
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Accession:DOID:9006027 term browser browse the term
Synonyms:exact_synonym: Asymmetrical coronal synostosis, cutaneous syndactyly of fingers and toes, and jejunal atresia
 primary_id: MESH:C537890


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    syndrome 11397
      Pfeiffer Rockelein Syndrome 0
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      Skin and Connective Tissue Diseases 7768
        connective tissue disease 5914
          bone disease 4363
            bone development disease 2387
              dysostosis 638
                synostosis 402
                  syndactyly 152
                    Pfeiffer Rockelein Syndrome 0
paths to the root