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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:Branchial Arch Syndrome X-Linked
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Accession:DOID:9001319 term browser browse the term
Synonyms:exact_synonym: Mandibulofacial Dysostosis, Toriello Type
 primary_id: MESH:C537102
 alt_id: OMIM:301950



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    sensory system disease 6507
      Hearing Disorders 770
        Hearing Loss 765
          Branchial Arch Syndrome X-Linked 0
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      musculoskeletal system disease 7668
        connective tissue disease 5225
          bone disease 3783
            bone development disease 2249
              dysostosis 561
                synostosis 363
                  craniosynostosis 304
                    Crouzon syndrome 30
                      Mandibulofacial Dysostosis 24
                        Branchial Arch Syndrome X-Linked 0
paths to the root