NOUN | state | gargoylism, Hurler's syndrome, Hurler's disease, dysostosis multiplex, lipochondrodystrophy | hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism |
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Meaning | 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 syndrome, Hurler's disease, dysostosis multiplex, lipochondrodystrophy | |
Broader | monogenic disorder, monogenic disease | 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 | |
Spanish | gargolismo | |
Catalan | lipochondrodystrophy |
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