hereditary multiple exostoses (DOID:206)
Alliance: disease page
Synonyms: hereditary multiple exostoses 1; hereditary multiple exostoses 2; hereditary multiple exostoses 3; Multiple congenital exostosis; Multiple exostosis syndromes; multiple ostechondromas; Osteochondromatosis syndrome
Alt IDs: OMIM:133700, OMIM:133701, OMIM:600209, ICD10CM:Q78.6, MESH:D005097, NCI:C5183, ORDO:321, UMLS_CUI:C0015306
Definition: An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth.