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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 16123
    Developmental Diseases 9597
      Neurodevelopmental Disorders 4534
        intellectual disability 2171
          Scaphocephaly, Maxillary Retrusion, and Mental Retardation 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      musculoskeletal system disease 5283
        connective tissue disease 3626
          bone disease 2987
            bone development disease 1312
              dysostosis 337
                synostosis 227
                  craniosynostosis 173
                    Scaphocephaly, Maxillary Retrusion, and Mental Retardation 1
paths to the root