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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:Blepharophimosis with Ptosis, Syndactyly, and Short Stature
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Accession:DOID:9001259 term browser browse the term
Synonyms:primary_id: MESH:C536235
 alt_id: OMIM:210745


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    physical disorder 4652
      blepharophimosis 17
        Blepharophimosis with Ptosis, Syndactyly, and Short Stature 0
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14107
      musculoskeletal system disease 7354
        connective tissue disease 4982
          bone disease 3646
            bone development disease 2158
              dysostosis 542
                synostosis 352
                  syndactyly 137
                    Blepharophimosis with Ptosis, Syndactyly, and Short Stature 0
paths to the root