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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 16058
    syndrome 6996
      Richieri Costa Pereira Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        Congenital Abnormalities 4759
          Musculoskeletal Abnormalities 1759
            Congenital Limb Deformities 504
              Lower Extremity Deformities, Congenital 129
                Congenital Foot Deformities 121
                  Talipes 94
                    clubfoot 50
                      Richieri Costa Pereira Syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.