Visualize Submit Comment
Metadata
ID DOID:0080036
Name SOST-related sclerosing bone dysplasia
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.
http://ghr.nlm.nih.gov/condition/sost-related-sclerosing-bone-dysplasia, http://rarediseases.info.nih.gov/GARD/Condition/4771/Sclerosteosis.aspx, http://www.healthline.com/galecontent/sclerosing-bone-dysplasias, http://www.inheritedhealth.com/condition/SOST-Related_Sclerosing_Bone_Dysplasia/785, http://www.medcyclopaedia.com/library/topics/volume_vi_2/v/van_buchems_disease.aspx, http://www.ncbi.nlm.nih.gov/omim/269500, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3152
Xrefs

OMIM:239100

Alternateids

DOID:0080035

Synonyms

van Buchem disease [EXACT]

Parent Relationships

is_a hyperostosis

Add an item to the term tracker