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Summary Literature (0)
DOID:0080036 - SOST-related sclerosing bone dysplasia

Disease Ontology 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.

Synonyms: van Buchem disease

Xenbase Genes : lrp5

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009395 - hyperostosis corticalis generalisata


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), hyperostosis (is_a)