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中文Hereditary Multiple Osteochondromas
Alias:
Hereditary Multiple Exostoses
Multiple Cartilaginous Exostoses
Multiple Hereditary Exostoses
Diaphyseal Aclasis
Exostoses, Multiple Hereditary
Multiple Congenital Exostosis
Multiple Osteochondromatosis
Multiple Osteochondromas
Bessel-Hagen Disease
Osteochondromatosis
Familial Exostoses
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遗传性多发性软骨瘤，又名遗传性多发性外生骨疣，与三叉神经指趾综合症、II型和外生骨疣、I型有关。与遗传性多发性软骨瘤有关的重要基因是EXT1（外生骨疣糖基转移酶1），其相关通路/超级通路包括糖基化疾病和硫酸软骨素/硫酸皮肤素代谢。在该疾病的背景下提到了异维甲酸。附属组织包括脊髓和骨骼。
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