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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



show annotations for term's descendants           Sort by:
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:21741611 PMID:25741868 PMID:34906502 NCBI chr 5:56,931,824...56,941,408
Ensembl chr 5:56,935,516...56,941,408
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Stomatognathic Diseases 1341
      Stomatognathic System Abnormalities 574
        Tooth Abnormalities 282
          Craniosynostosis and Dental Anomalies 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      musculoskeletal system disease 8271
        connective tissue disease 5757
          bone disease 4270
            bone development disease 2303
              dysostosis 576
                synostosis 375
                  craniosynostosis 315
                    Craniosynostosis and Dental Anomalies 1
paths to the root