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单词 dysostosis multiplex
释义
dysostosis multiplex
(extremely rare)
n

WORD FAMILY
dysostosis multiplex
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, gargoylism, lipochondrodystrophy
monogenic disease, monogenic disorder
an inherited disease controlled by a single pair of genes
mucopolysaccharidosis
any 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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更新时间:2024/12/23 9:11:23