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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:Summitt Syndrome
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Accession:DOID:9005361 term browser browse the term
Synonyms:exact_synonym: Summitt's acrocephalosyndactyly;   recessive acrocephalosyndactyly with normal intelligence
 primary_id: MESH:C538142
 alt_id: OMIM:272350

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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9495
      Summitt Syndrome 0
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14121
      Skin and Connective Tissue Diseases 6456
        connective tissue disease 5012
          bone disease 3675
            bone development disease 2182
              dysostosis 543
                synostosis 354
                  syndactyly 137
                    acrocephalosyndactylia 80
                      Summitt Syndrome 0
paths to the root