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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:Craniosynostosis and Dental Anomalies
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Accession:DOID:9001911 term browser browse the term
Synonyms:exact_synonym: CRSDA;   Kreiborg-Pakistani syndrome;   craniosynostosis-dental anomalies
 primary_id: OMIM:614188
 xref: MONDO:0013615;   ORDO:284149


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Craniosynostosis and Dental Anomalies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL11RA interleukin 11 receptor subunit alpha ISO ClinVar Annotator: match by term: Craniosynostosis and dental anomalies OMIM
ClinVar		 PMID:21741611 PMID:25741868 PMID:34906502 NCBI chr11:51,324,915...51,341,981 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    Stomatognathic Diseases 1298
      Stomatognathic System Abnormalities 570
        Tooth Abnormalities 280
          Craniosynostosis and Dental Anomalies 1
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      musculoskeletal system disease 7742
        connective tissue disease 5279
          bone disease 3826
            bone development disease 2275
              dysostosis 575
                synostosis 371
                  craniosynostosis 312
                    Craniosynostosis and Dental Anomalies 1
paths to the root