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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 2, hereditary multiple exostoses 3, Multiple exostosis syndromes, multiple ostechondromas, Osteochondromatosis syndrome (disorder) [Ambiguous], Osteochondromatosis syndrome, hereditary multiple exostoses 1, Multiple congenital exostosis
Echinobase Genes
:
ext1
| MIM:133700 - exostoses, multiple, type i |
| MIM:133701 - exostoses, multiple, type ii |
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)