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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:Pavone Fiumara Rizzo Syndrome
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Accession:DOID:9006245 term browser browse the term
Synonyms:exact_synonym: Syndactyly type 1 with cataracts and mental retardation
 primary_id: MESH:C536313


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    syndrome 18073
      Pavone Fiumara Rizzo Syndrome 0
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      Skin and Connective Tissue Diseases 9687
        connective tissue disease 7446
          bone disease 5601
            bone development disease 3274
              dysostosis 856
                synostosis 554
                  syndactyly 183
                    Pavone Fiumara Rizzo Syndrome 0
paths to the root