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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: MIM: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 Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Craniosynostosis and dental anomalies OMIM
ClinVar		 PMID:21741611 PMID:25741868 PMID:32860008 PMID:34906502 NCBI chr 5:56,931,824...56,941,408
Ensembl chr 5:56,935,516...56,941,408 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    Stomatognathic Diseases 1368
      Stomatognathic System Abnormalities 591
        Tooth Abnormalities 297
          Craniosynostosis and Dental Anomalies 1
Path 2
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      musculoskeletal system disease 8492
        connective tissue disease 5960
          bone disease 4413
            bone development disease 2373
              dysostosis 632
                synostosis 397
                  craniosynostosis 332
                    Craniosynostosis and Dental Anomalies 1
paths to the root