Summary Literature (0)

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,

Echinobase Genes : ext1


OMIM:

MIM:133700 - exostoses, multiple, type i

MIM:133701 - exostoses, multiple, type ii

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

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