单词 | lipochondrodystrophy |
释义 | lipochondrodystrophy (extremely rare) n WORD FAMILY lipochondrodystrophy n hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism; characterized by severe abnormalities in development of skeletal cartilage and bone and mental retardation Syn|Hyper Hurler's disease, Hurler's syndrome, dysostosis multiplex, gargoylism monogenic disease, monogenic disorder an inherited disease controlled by a single pair of genes mucopolysaccharidosisany of a group of genetic disorders involving a defect in the metabolism of mucopolysaccharides resulting in greater than normal levels of mucopolysaccharides in tissues |
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