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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 Pereira Syndrome
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Accession:DOID:9004119 term browser browse the term
Synonyms:exact_synonym: RCPS;   Richieri-Costa and Pereira form of acrofacial dysostosis;   Robin sequence with cleft mandible and limb anomalies
 primary_id: MESH:C535677;   RDO:0000932
 alt_id: OMIM:268305
For additional species annotation, visit the Alliance of Genome Resources.



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Richieri Costa Pereira Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif4a3 eukaryotic translation initiation factor 4A3 ISO ClinVar Annotator: match by OMIM:268305 OMIM
ClinVar
PMID:24360810 NCBI chr10:104,549,038...104,559,032
Ensembl chr10:104,549,038...104,559,057
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      Richieri Costa Pereira Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        Congenital Abnormalities 5603
          Musculoskeletal Abnormalities 2243
            Congenital Limb Deformities 459
              Lower Extremity Deformities, Congenital 77
                Congenital Foot Deformities 68
                  Talipes 39
                    clubfoot 32
                      Richieri Costa Pereira Syndrome 1
paths to the root