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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 (disorder) [Ambiguous]; hereditary multiple exostoses 1; hereditary multiple exostoses 2; hereditary multiple exostoses 3; multiple ostechondromas

Referenced OMIM:
OMIM:133700 - EXOSTOSES, MULTIPLE, TYPE I
OMIM:133701 - EXOSTOSES, MULTIPLE, TYPE II

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : ext1, ext2

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): exostosis (is_a)


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