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ONTOLOGY REPORT - ANNOTATIONS


Term:osteogenesis imperfecta type 8
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Accession:DOID:0110336 term browser browse the term
Definition:An osteogenesis imperfecta that has_material_basis_in mutation in the P3H1 gene on chromosome 1p34.2. (DO)
Synonyms:exact_synonym: OI, TYPE VIII;   OI8;   osteogenesis imperfecta type VIII
 primary_id: MESH:C536049
 alt_id: OMIM:610915;   RDO:0001463
 xref: GARD:10152
For additional species annotation, visit the Alliance of Genome Resources.


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osteogenesis imperfecta type 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G P3h1 prolyl 3-hydroxylase 1 JBrowse link 5 138,279,597 138,294,280 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    Developmental Diseases 8772
      bone development disease 1001
        osteochondrodysplasia 410
          osteogenesis imperfecta 36
            osteogenesis imperfecta type 8 1
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      Skin and Connective Tissue Diseases 4236
        connective tissue disease 2790
          bone disease 2242
            bone development disease 1001
              osteochondrodysplasia 410
                osteogenesis imperfecta 36
                  osteogenesis imperfecta type 8 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.