PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 11001806-1 2000 Smith-Lemli-Opitz syndrome (SLOS), an autosomal recessive condition with multiple malformations, mental retardation, and growth failure, results from markedly reduced activity of the final enzyme in the cholesterol biosynthetic pathway, 7-dehydrocholesterol reductase (DHCR7). Cholesterol 203-214 7-dehydrocholesterol reductase Homo sapiens 237-267 11001806-1 2000 Smith-Lemli-Opitz syndrome (SLOS), an autosomal recessive condition with multiple malformations, mental retardation, and growth failure, results from markedly reduced activity of the final enzyme in the cholesterol biosynthetic pathway, 7-dehydrocholesterol reductase (DHCR7). Cholesterol 203-214 7-dehydrocholesterol reductase Homo sapiens 269-274 11001806-3 2000 The biochemical defect in SLOS is a deficiency of DHCR7, which results in an abnormally low cholesterol level, and increased amounts of intermediates of sterol biosynthesis. Cholesterol 92-103 7-dehydrocholesterol reductase Homo sapiens 50-55