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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 3
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Accession:DOID:9002862 term browser browse the term
Synonyms:exact_synonym: CRS3;   coronal craniosynostosis
 primary_id: OMIM:615314
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Craniosynostosis 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tcf12 transcription factor 12 ISO ClinVar Annotator: match by OMIM:615314
ClinVar Annotator: match by term: Craniosynostosis 3
OMIM
ClinVar
PMID:23354436 PMID:24736737 PMID:25741868 NCBI chr 8:78,343,634...78,657,738
Ensembl chr 8:78,345,754...78,655,856
JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Coronal craniosynostosis ClinVar NCBI chr 6:53,401,241...53,403,235
Ensembl chr 6:53,401,109...53,403,214
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16158
    Developmental Disease 9628
      bone development disease 1325
        dysostosis 340
          synostosis 228
            craniosynostosis 173
              Craniosynostosis 3 2
Path 2
Term Annotations click to browse term
  disease 16158
    disease of anatomical entity 15408
      musculoskeletal system disease 5294
        connective tissue disease 3641
          bone disease 2998
            bone development disease 1325
              dysostosis 340
                synostosis 228
                  craniosynostosis 173
                    Craniosynostosis 3 2
paths to the root