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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 15619
    disease of anatomical entity 14948
      musculoskeletal system disease 4271
        bone disease 2215
          bone remodeling disease 420
            hyperostosis 41
              SOST-related sclerosing bone dysplasia 2
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                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.