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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 2
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Accession:DOID:9004512 term browser browse the term
Synonyms:exact_synonym: CRS2;   CSB;   Warman Mulliken Hayward syndrome;   craniosynostosis, Boston-type;   craniosynostosis, type 2
 primary_id: MESH:C565753
 alt_id: OMIM:604757
For additional species annotation, visit the Alliance of Genome Resources.



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Craniosynostosis 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msx2 msh homeobox 2 ISO ClinVar Annotator: match by term: Craniosynostosis 2 OMIM
ClinVar
PMID:7597092 PMID:8106171 PMID:8357019 PMID:8968743 PMID:9256341 More... NCBI chr17:11,097,214...11,102,879
Ensembl chr17:11,097,103...11,102,879
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      Craniosynostosis 2 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      Skin and Connective Tissue Diseases 5863
        connective tissue disease 4447
          bone disease 3124
            bone development disease 1425
              dysostosis 394
                synostosis 242
                  craniosynostosis 187
                    Craniosynostosis 2 1
paths to the root