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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


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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 term: Richieri Costa-Pereira syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:24360810 NCBI chr11:119,179,189...119,190,869
Ensembl chr11:119,179,189...119,190,915 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    syndrome 10338
      Richieri Costa Pereira Syndrome 1
Path 2
Term Annotations click to browse term
  disease 18301
    Developmental Disease 17912
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17782
        Congenital Abnormalities 7605
          Musculoskeletal Abnormalities 3334
            Congenital Limb Deformities 1026
              Lower Extremity Deformities, Congenital 187
                Congenital Foot Deformities 179
                  Talipes 47
                    clubfoot 34
                      Richieri Costa Pereira Syndrome 1
paths to the root