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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:Sugarman brachydactyly
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Accession:DOID:0110979 term browser browse the term
Definition:A brachydactyly characterized by a nonarticulating great toe set dorsal and proximal to the typical position. (DO)
Synonyms:exact_synonym: brachydactyly with major proximal phalangeal shortening
 primary_id: OMIM:272150
 xref: GARD:5058;   ORDO:498602


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      bone development disease 2307
        dysostosis 578
          brachydactyly 34
            Sugarman brachydactyly 0
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Skin and Connective Tissue Diseases 7461
        connective tissue disease 5787
          bone disease 4302
            bone development disease 2307
              dysostosis 578
                brachydactyly 34
                  Sugarman brachydactyly 0
paths to the root