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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:Baller-Gerold syndrome
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Accession:DOID:0050654 term browser browse the term
Definition:A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone. (DO)
Synonyms:exact_synonym: BGS;   Craniosynostosis Radial Aplasia Syndrome;   Craniosynostosis with radial defects
 primary_id: MESH:C536788;   RDO:0002477
 alt_id: OMIM:218600
 xref: GARD:1602;   ORDO:1223
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 16091
    syndrome 7036
      Baller-Gerold syndrome 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      musculoskeletal system disease 5740
        connective tissue disease 4137
          bone disease 3507
            bone development disease 1307
              dysostosis 337
                synostosis 227
                  craniosynostosis 173
                    Baller-Gerold syndrome 1
paths to the root