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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:Sakati-Nyhan syndrome
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Accession:DOID:0060359 term browser browse the term
Definition:An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections. (DO)
Synonyms:exact_synonym: ACPS III;   ACPS with leg hypoplasia;   Sakati syndrome;   Sakati-Nyhan-Tisdale syndrome;   acrocephalopolysyndactyly type 3;   acrocephalopolysyndactyly type III
 primary_id: MESH:C537227
 alt_id: OMIM:101120
 xref: GARD:115;   ORDO:3128


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Path 1
Term Annotations click to browse term
  disease 18976
    syndrome 10887
      Sakati-Nyhan syndrome 0
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      Skin and Connective Tissue Diseases 7520
        connective tissue disease 5786
          bone disease 4302
            bone development disease 2307
              dysostosis 578
                synostosis 377
                  syndactyly 148
                    acrocephalosyndactylia 88
                      Sakati-Nyhan syndrome 0
paths to the root