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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: ICD10CM:M21.8;   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: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 15992
    syndrome 6097
      Bruck syndrome 2
        Bruck Syndrome 1 1
        Bruck Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 15992
    disease of anatomical entity 15263
      Skin and Connective Tissue Diseases 5356
        connective tissue disease 3992
          bone disease 3456
            bone development disease 1253
              osteochondrodysplasia 426
                osteogenesis imperfecta 38
                  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.