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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:0005508 - hereditary multiple osteochondromas |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
exostosis (is_a)