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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 chr14:131,183,095...131,285,001
Ensembl chr14:131,181,710...131,579,703
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13472
    Developmental Disease 9999
      Neurodevelopmental Disorders 5435
        intellectual disability 3300
          Scaphocephaly, Maxillary Retrusion, and Mental Retardation 1
Path 2
Term Annotations click to browse term
  disease 13472
    disease of anatomical entity 13134
      musculoskeletal system disease 5682
        connective tissue disease 3827
          bone disease 2572
            bone development disease 1328
              dysostosis 370
                synostosis 224
                  craniosynostosis 171
                    Scaphocephaly, Maxillary Retrusion, and Mental Retardation 1
paths to the root