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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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Scaphocephaly, Maxillary Retrusion, and Mental Retardation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR2 fibroblast growth factor receptor 2 ISO OMIM NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13595
    Developmental Disease 10032
      Neurodevelopmental Disorders 5484
        intellectual disability 3337
          Scaphocephaly, Maxillary Retrusion, and Mental Retardation 1
Path 2
Term Annotations click to browse term
  disease 13595
    disease of anatomical entity 13254
      musculoskeletal system disease 5698
        connective tissue disease 3850
          bone disease 2592
            bone development disease 1342
              dysostosis 377
                synostosis 227
                  craniosynostosis 175
                    Scaphocephaly, Maxillary Retrusion, and Mental Retardation 1
paths to the root