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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 chr10:108,415,201...108,425,195
Ensembl chr10:108,415,202...108,425,206
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      Richieri Costa Pereira Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        Congenital Abnormalities 4795
          Musculoskeletal Abnormalities 1781
            Congenital Limb Deformities 504
              Lower Extremity Deformities, Congenital 126
                Congenital Foot Deformities 118
                  Talipes 92
                    clubfoot 48
                      Richieri Costa Pereira Syndrome 1
paths to the root