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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:Schaefer Stein Oshman Syndrome
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Accession:DOID:9005795 term browser browse the term
Synonyms:exact_synonym: Craniodiaphyseal dysplasia, dominant;   Dominantly inherited craniodiaphyseal dysplasia
 primary_id: MESH:C536627;   RDO:0002263



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10832
      Schaefer Stein Oshman Syndrome 0
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      musculoskeletal system disease 8271
        connective tissue disease 5757
          bone disease 4270
            bone development disease 2303
              osteochondrodysplasia 860
                Schaefer Stein Oshman Syndrome 0
paths to the root