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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
 primary_id: OMIM:614188;   RDO:9000257
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:614188
ClinVar Annotator: match by term: Craniosynostosis and dental anomalies
OMIM
ClinVar
PMID:21741611 PMID:25741868 NCBI chr 5:58,149,150...58,159,072
Ensembl chr 5:58,151,985...58,159,072
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    Stomatognathic Diseases 977
      tooth disease 288
        Tooth Abnormalities 149
          Craniosynostosis and Dental Anomalies 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      musculoskeletal system disease 6244
        connective tissue disease 4355
          bone disease 3040
            bone development disease 1371
              dysostosis 381
                synostosis 229
                  craniosynostosis 173
                    Craniosynostosis and Dental Anomalies 1
paths to the root