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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.ncbi.nlm.nih.gov/omim/269500
Xrefs

OMIM:239100

ORDO:3152

Alternateids

DOID:0080035

Synonyms

van Buchem disease [EXACT]

Parent Relationships

is_a hyperostosis

is_a autosomal recessive disease

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