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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:Scaphocephaly, Maxillary Retrusion, and Mental Retardation
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Accession:DOID:9000967 term browser browse the term
Synonyms:primary_id: MESH:C566511;   RDO:0014845
 alt_id: OMIM:609579
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14274
    Developmental Disease 10452
      Neurodevelopmental Disorders 5650
        intellectual disability 3422
          Scaphocephaly, Maxillary Retrusion, and Mental Retardation 1
Path 2
Term Annotations click to browse term
  disease 14274
    disease of anatomical entity 13874
      musculoskeletal system disease 5906
        connective tissue disease 4002
          bone disease 2676
            bone development disease 1366
              dysostosis 379
                synostosis 229
                  craniosynostosis 178
                    Scaphocephaly, Maxillary Retrusion, and Mental Retardation 1
paths to the root