SOST-related sclerosing bone dysplasia

Term ID

DOID:0080036

Synonyms

• van Buchem 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. (3)

References

• OMIM:239100
• ORDO:3152

Ontology

Human Disease   ( DOID:0080036 )