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ONTOLOGY REPORT - ANNOTATIONS


Term:SOST-related sclerosing bone dysplasia
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Accession:DOID:0080036 term browser browse the term
Definition:A hyperostosis that has_material_basis_in a mutation in the SOST gene which results_in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located_in skull. (DO)
Synonyms:exact_synonym: VBCH;   endosteal hyperostosis, autosomal recessive;   hyperostosis corticalis generalisata;   hyperphosphatasemia tarda;   van Buchem disease
 primary_id: OMIM:239100
 alt_id: RDO:9002944
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SOST-related sclerosing bone dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrp5 LDL receptor related protein 5 JBrowse link 1 218,816,833 218,920,147 RGD:8554872
G Sost sclerostin JBrowse link 10 89,897,087 89,900,131 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14924
    Developmental Diseases 7770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7092
        genetic disease 6457
          SOST-related sclerosing bone dysplasia 2
Path 2
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      musculoskeletal system disease 3975
        connective tissue disease 2572
          bone disease 2114
            bone remodeling disease 417
              hyperostosis 43
                SOST-related sclerosing bone dysplasia 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.