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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:Mandibulofacial Dysostosis with Macroblepharon and Macrostomia
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Accession:DOID:9003572 term browser browse the term
Synonyms:primary_id: MESH:C566520
 alt_id: MIM:602562



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    Developmental Disease 14522
      bone development disease 2370
        dysostosis 630
          Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 0
Path 2
Term Annotations click to browse term
  disease 19050
    disease of anatomical entity 18384
      nervous system disease 14257
        Neurologic Manifestations 10336
          sensory system disease 7255
            mouth disease 1032
              Mouth Abnormalities 172
                Macrostomia 2
                  Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 0
paths to the root