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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;   RDO:0002329;   RDO:0014307
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, PMID:18786927, PMID:23918290, PMID:23949913, PMID:25741868, PMID:27013732, PMID:28492532, PMID:28808027 NCBI chr17:11,683,862...11,689,527
Ensembl chr17:11,683,862...11,689,527
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      Craniosynostosis 2 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      Skin and Connective Tissue Diseases 5474
        connective tissue disease 4073
          bone disease 3528
            bone development disease 1329
              dysostosis 342
                synostosis 229
                  craniosynostosis 176
                    Craniosynostosis 2 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.