ONTOLOGY REPORT - ANNOTATIONS


Term:Bruck syndrome
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Accession:DOID:0060231 term browser browse the term
Definition:A syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta. (DO)
Synonyms:exact_synonym: osteogenesis imperfecta with congenital joint contractures
 primary_id: RDO:9004938
 xref: ORDO:2771
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Bruck syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkbp10 FKBP prolyl isomerase 10 JBrowse link 10 88,326,337 88,338,199 RGD:13592920
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 JBrowse link 8 99,977,334 100,059,736 RGD:8554872
RGD:13592920
Bruck Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkbp10 FKBP prolyl isomerase 10 JBrowse link 10 88,326,337 88,338,199 RGD:8554872
RGD:7240710
Bruck Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 JBrowse link 8 99,977,334 100,059,736 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      Bruck syndrome 2
        Bruck Syndrome 1 1
        Bruck Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      Skin and Connective Tissue Diseases 3903
        connective tissue disease 2572
          bone disease 2118
            bone development disease 891
              osteochondrodysplasia 403
                osteogenesis imperfecta 37
                  Bruck syndrome 2
                    Bruck Syndrome 1 1
                    Bruck 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.