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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
 xref: MESH:C567819;   MIM:613005;   MONDO:0013077



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Santos Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt7a Wnt family member 7A ISO OMIM NCBI chr 4:123,863,108...123,908,981
Ensembl chr 4:123,863,108...123,908,981
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    syndrome 11372
      Santos Syndrome 1
Path 2
Term Annotations click to browse term
  disease 19141
    Developmental Disease 14667
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13715
        Congenital Abnormalities 7887
          Musculoskeletal Abnormalities 3456
            Congenital Limb Deformities 1071
              Lower Extremity Deformities, Congenital 200
                Congenital Foot Deformities 192
                  Talipes 50
                    clubfoot 37
                      Santos Syndrome 1
paths to the root