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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:Short Stature and Facioauriculothoracic Malformations
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Accession:DOID:9000193 term browser browse the term
Synonyms:primary_id: MESH:C566457
 alt_id: OMIM:609654



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    Developmental Disease 14397
      bone development disease 2307
        Dwarfism 865
          Short Stature and Facioauriculothoracic Malformations 0
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      musculoskeletal system disease 8304
        connective tissue disease 5786
          bone disease 4302
            bone development disease 2307
              Dwarfism 865
                Short Stature and Facioauriculothoracic Malformations 0
paths to the root