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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 chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13618
    Developmental Disease 10037
      Neurodevelopmental Disorders 5515
        intellectual disability 3373
          Scaphocephaly, Maxillary Retrusion, and Mental Retardation 1
Path 2
Term Annotations click to browse term
  disease 13618
    disease of anatomical entity 13276
      musculoskeletal system disease 5691
        connective tissue disease 3854
          bone disease 2575
            bone development disease 1329
              dysostosis 372
                synostosis 222
                  craniosynostosis 168
                    Scaphocephaly, Maxillary Retrusion, and Mental Retardation 1
paths to the root