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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 15619
    Developmental Diseases 8737
      bone development disease 983
        osteochondrodysplasia 408
          osteogenesis imperfecta 35
            osteogenesis imperfecta type 8 1
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 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.