Definitions of lipochondrodystrophy
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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
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synonyms:
Hurler's disease, Hurler's syndrome, dysostosis multiplex, gargoylism
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type of:
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monogenic disease, monogenic disorder
an inherited disease controlled by a single pair of genes
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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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monogenic disease, monogenic disorder
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