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ONTOLOGY REPORT - ANNOTATIONS


Term:osteogenesis imperfecta type 11
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Accession:DOID:0110351 term browser browse the term
Definition:An osteogenesis imperfecta that has_material_basis_in mutation in the FKBP10 gene on chromosome 17q21. (DO)
Synonyms:exact_synonym: OI, TYPE XI;   OI11;   osteogenesis imperfecta type XI
 primary_id: OMIM:610968
 alt_id: RDO:9000622
For additional species annotation, visit the Alliance of Genome Resources.


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osteogenesis imperfecta type 11 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:7240710
RGD:8554872
G Sp7 Sp7 transcription factor JBrowse link 7 143,957,316 143,967,488 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      bone development disease 983
        osteochondrodysplasia 408
          osteogenesis imperfecta 35
            osteogenesis imperfecta type 11 2
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      Skin and Connective Tissue Diseases 4211
        connective tissue disease 2763
          bone disease 2215
            bone development disease 983
              osteochondrodysplasia 408
                osteogenesis imperfecta 35
                  osteogenesis imperfecta type 11 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.