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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 4
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Accession:DOID:9004470 term browser browse the term
Synonyms:exact_synonym: CRS4
 primary_id: OMIM:600775
For additional species annotation, visit the Alliance of Genome Resources.


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Craniosynostosis 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: Craniosynostosis 4 OMIM
ClinVar
PMID:23354439 PMID:25741868 PMID:26097063 PMID:27738187 PMID:28492532 PMID:28808027 PMID:30758909 NCBI chr 1:82,112,449...82,120,902
Ensembl chr 1:82,112,449...82,120,902
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    Developmental Disease 10571
      bone development disease 1371
        dysostosis 381
          synostosis 229
            craniosynostosis 173
              Craniosynostosis 4 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 4 1
paths to the root