ONTOLOGY REPORT - ANNOTATIONS


Term:Cole-Carpenter syndrome
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Accession:DOID:0060438 term browser browse the term
Definition:An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance. (DO)
Synonyms:exact_synonym: bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features
 primary_id: MESH:C535963
 alt_id: RDO:0001353
 xref: OMIM:PS112240;   ORDO:2050
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Cole-Carpenter syndrome 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:8554872
RGD:11554173
G Sec24d SEC24 homolog D, COPII coat complex component JBrowse link 2 227,455,704 227,562,801 RGD:11554173
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
Cole-Carpenter Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sec24d SEC24 homolog D, COPII coat complex component JBrowse link 2 227,455,704 227,562,801 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      Cole-Carpenter syndrome 2
        Cole-Carpenter Syndrome 1 1
        Cole-Carpenter Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      musculoskeletal system disease 3984
        connective tissue disease 2572
          bone disease 2118
            bone development disease 891
              dysostosis 233
                synostosis 148
                  craniosynostosis 112
                    Cole-Carpenter syndrome 2
                      Cole-Carpenter Syndrome 1 1
                      Cole-Carpenter Syndrome 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.