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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:Richieri Costa Guion-Almeida Syndrome
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Accession:DOID:9004072 term browser browse the term
Synonyms:exact_synonym: Acrofacial dysostosis Richieri Costa Guion-Almeida type;   Richieri Costa Guion-Almeida dwarfism;   Richieri-Costa Guion-Almeida Cohen syndrome;   Sao Paulo MCA/MR syndrome;   short stature, mental retardation, eye anomalies, and cleft lip/palate
 primary_id: MESH:C535676
 alt_id: OMIM:268850


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      Richieri Costa Guion-Almeida Syndrome 0
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Skin and Connective Tissue Diseases 7431
        connective tissue disease 5757
          bone disease 4270
            bone development disease 2304
              dysostosis 577
                synostosis 376
                  craniosynostosis 315
                    Crouzon syndrome 30
                      Mandibulofacial Dysostosis 24
                        Richieri Costa Guion-Almeida Syndrome 0
paths to the root