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Sinonim lipochondrodystrophy

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1. 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 (noun.state)
:monogenic disease, monogenic disorder,
definition:an inherited disease controlled by a single pair of genes (noun.state)
:mucopolysaccharidosis,
definition: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 (noun.state)

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