Summary Literature (1)

DOID:206 - hereditary multiple exostoses

Disease Ontology 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.

Synonyms: Multiple congenital exostosis, Multiple exostosis syndromes, Osteochondromatosis syndrome, Osteochondromatosis syndrome (disorder) [Ambiguous], hereditary multiple exostoses 1, hereditary multiple exostoses 2, hereditary multiple exostoses 3, multiple ostechondromas,

Xenbase Genes : ext1, ext2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0005508 - hereditary multiple osteochondromas

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee