FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term SOST-related sclerosing bone dysplasia ID (Ontology) DOID:0080036 (Human Disease)
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.
Also Known As "van Buchem disease"
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Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
bone remodeling disease          |
 |__hyperostosis_________________|
                                 SOST-related sclerosing bone dysplasia
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Is a autosomal recessive disease
hyperostosis
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Synonyms
  • "van Buchem disease" EXACT
Secondary IDs
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GARD:4771
MIM:239100
ORDO:3152