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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:Pierre Robin Sequence with Facial and Digital Anomalies
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Accession:DOID:9008962 term browser browse the term
Synonyms:primary_id: MESH:C564078
 alt_id: OMIM:311895



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    syndrome 9894
      Weissenbacher-Zweymuller syndrome 44
        Pierre Robin Sequence with Facial and Digital Anomalies 0
Path 2
Term Annotations click to browse term
  disease 17412
    Developmental Disease 17260
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17174
        Congenital Abnormalities 7316
          Musculoskeletal Abnormalities 3217
            Craniofacial Abnormalities 2595
              Maxillofacial Abnormalities 304
                Jaw Abnormalities 257
                  Weissenbacher-Zweymuller syndrome 44
                    Pierre Robin Sequence with Facial and Digital Anomalies 0
paths to the root