SOST-related sclerosing bone dysplasia

Summary

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: lrp5

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009395 - hyperostosis corticalis generalisata

MONDO:0009395 - hyperostosis corticalis generalisata

Other Model Organisms: AGR, 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)