An inborn error of cholesterol biosynthesis. 1986


UI MeSH Term Description Entries
D008052 Lipid Metabolism, Inborn Errors Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable. Lipid Metabolism, Inborn Error
D008297 Male Males
D010770 Phosphotransferases A rather large group of enzymes comprising not only those transferring phosphate but also diphosphate, nucleotidyl residues, and others. These have also been subdivided according to the acceptor group. (From Enzyme Nomenclature, 1992) EC 2.7. Kinases,Phosphotransferase,Phosphotransferases, ATP,Transphosphorylase,Transphosphorylases,Kinase,ATP Phosphotransferases
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D002784 Cholesterol The principal sterol of all higher animals, distributed in body tissues, especially the brain and spinal cord, and in animal fats and oils. Epicholesterol
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D017853 Phosphotransferases (Alcohol Group Acceptor) A group of enzymes that transfers a phosphate group onto an alcohol group acceptor. EC 2.7.1.

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