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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:Santos Syndrome
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Accession:DOID:9007832 term browser browse the term
Synonyms:exact_synonym: Fibular Agenesis-Hypoplasia, Oligodactylous Clubfeet, and Anonychia-Nail Hypoplasia Syndrome
 primary_id: MESH:C567819
 alt_id: OMIM:613005


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9491
      Santos Syndrome 0
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        Congenital Abnormalities 7061
          Musculoskeletal Abnormalities 3133
            Congenital Limb Deformities 975
              Lower Extremity Deformities, Congenital 178
                Congenital Foot Deformities 170
                  Talipes 47
                    clubfoot 34
                      Santos Syndrome 0
paths to the root