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SOST-related sclerosing bone dysplasia
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease hyperostosis
External Links
- Disease Ontology
- DOID:0080036
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q7LGC8 | Carbohydrate sulfotransferase 3 |
