Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


GViewer not supported for chinchilla.
show annotations for term's descendants           Sort by:
 
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 chrNW_004955551:2,321,190...2,427,000 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12530
    Developmental Disease 9323
      Neurodevelopmental Disorders 5048
        intellectual disability 3068
          Scaphocephaly, Maxillary Retrusion, and Mental Retardation 1
Path 2
Term Annotations click to browse term
  disease 12530
    disease of anatomical entity 12210
      musculoskeletal system disease 5368
        connective tissue disease 3597
          bone disease 2449
            bone development disease 1275
              dysostosis 351
                synostosis 216
                  craniosynostosis 165
                    Scaphocephaly, Maxillary Retrusion, and Mental Retardation 1
paths to the root