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ENExostoses, Multiple, Type I (EXT1)
Alias:
Exostoses, Multiple, Type 1
Multiple Osteochondromas
Multiple Cartilaginous Exostoses
Bessel-Hagen Disease
Osteochondromatosis
Diaphyseal Aclasis
Ext1
Ext
Glucuronyltransferase/n-Acetylglucosaminyltransferase Deficiency
Exostoses, Congenital, Multiple, Type 1
Hereditary Multiple Exostoses 1
Hereditary Multiple Exostoses
Multiple Congenital Exostosis
Multiple Congenital Exostoses
Osteochondromas, Multiple
Enchondromatosis
Ext1/ext2-Cdg
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Exostoses, Multiple, Type I, also known as exostoses, multiple, type 1, is related to hereditary multiple exostoses and osteochondroma, and has symptoms including pain An important gene associated with Exostoses, Multiple, Type I is EXT1 (Exostosin Glycosyltransferase 1), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Diseases of glycosylation. The drug Isotretinoin has been mentioned in the context of this disorder. Affiliated tissues include bone and spinal cord, and related phenotypes are osteochondroma and short stature
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