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ONTOLOGY REPORT - ANNOTATIONS


Term:osteogenesis imperfecta type 9
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Accession:DOID:0110349 term browser browse the term
Definition:An osteogenesis imperfecta that has_material_basis_in mutation in the PPIB gene on chromosome 15q22. (DO)
Synonyms:exact_synonym: OI, Type IX;   OI9;   Osteogenesis Imperfecta, Sillence Type II-III, Without Abnormality of Type I Collagen;   osteogenesis imperfecta type IX
 primary_id: MESH:C564921
 alt_id: OMIM:259440;   RDO:0013718
 xref: GARD:10619
For additional species annotation, visit the Alliance of Genome Resources.


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osteogenesis imperfecta type 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ppib peptidylprolyl isomerase B JBrowse link 8 71,719,681 71,725,538 RGD:7240710
RGD:8554872
G Snx22 sorting nexin 22 JBrowse link 8 71,725,405 71,728,729 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      bone development disease 1009
        osteochondrodysplasia 414
          osteogenesis imperfecta 38
            osteogenesis imperfecta type 9 2
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      Skin and Connective Tissue Diseases 4232
        connective tissue disease 2797
          bone disease 2248
            bone development disease 1009
              osteochondrodysplasia 414
                osteogenesis imperfecta 38
                  osteogenesis imperfecta type 9 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.