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ONTOLOGY REPORT - ANNOTATIONS


Term:Cole-Carpenter Syndrome 1
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Accession:DOID:9009043 term browser browse the term
Definition:A syndrome characterized by bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features. (OMIM)
Synonyms:exact_synonym: CLCRP1
 primary_id: OMIM:112240
 alt_id: RDO:9001399
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Cole-Carpenter Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G P4hb prolyl 4-hydroxylase subunit beta JBrowse link 10 109,736,459 109,748,070 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    syndrome 5218
      Cole-Carpenter syndrome 2
        Cole-Carpenter Syndrome 1 1
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      musculoskeletal system disease 4297
        connective tissue disease 2786
          bone disease 2238
            bone development disease 1001
              dysostosis 307
                synostosis 203
                  craniosynostosis 167
                    Cole-Carpenter syndrome 2
                      Cole-Carpenter Syndrome 1 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.