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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:Axial Mesodermal Dysplasia Spectrum
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Accession:DOID:9003252 term browser browse the term
Synonyms:exact_synonym: Russell Weaver Bull syndrome
 primary_id: MESH:C537790



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    physical disorder 4917
      imperforate anus 114
        Axial Mesodermal Dysplasia Spectrum 0
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      musculoskeletal system disease 7805
        connective tissue disease 5332
          bone disease 3850
            bone development disease 2300
              dysostosis 583
                synostosis 377
                  craniosynostosis 316
                    Crouzon syndrome 30
                      Mandibulofacial Dysostosis 24
                        Goldenhar syndrome 6
                          Axial Mesodermal Dysplasia Spectrum 0
paths to the root