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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: hereditary multiple exostoses 1, hereditary multiple exostoses 2, hereditary multiple exostoses 3, Multiple congenital exostosis, Multiple exostosis syndromes, multiple ostechondromas, Osteochondromatosis syndrome, Osteochondromatosis syndrome (disorder) [Ambiguous]
Xenbase Genes
:
ext1,
ext2
| MONDO:0005508 - hereditary multiple osteochondromas |
| MIM:133700 - EXOSTOSES, MULTIPLE, TYPE I; EXT1 |
| MIM:133701 - EXOSTOSES, MULTIPLE, TYPE II; EXT2 |
| MIM:600209 - EXOSTOSES, MULTIPLE, TYPE III; EXT3 |
Other Model Organisms: Alliance, 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)