lipochondrodystrophy

lipochondrodystrophy
noun
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

Useful english dictionary. 2012.

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  • lipochondrodystrophy — SYN: Hurler syndrome. * * * li·po·chon·dro·dys·tro·phy .kän drə dis trə fē n, pl phies MUCOPOLYSACCHARIDOSIS esp HURLER S SYNDROME * * * n. multiple congenital defects affecting lipid (fat) metabolism, cartilage and bone, skin, and the major …   Medical dictionary

  • lipochondrodystrophy — n. multiple congenital defects affecting lipid (fat) metabolism, cartilage and bone, skin, and the major internal organs, leading to mental retardation, dwarfism, and deformities of the bones …   The new mediacal dictionary

  • Липохондродистрофия (Lipochondrodystrophy) — множественные врожденные дефекты, связанные с врожденными нарушениями липидного (жирового) обмена, поражением хрящевой и костной ткани, кожи, а также различных внутренних органов и приводящие к задержке умственного развития, карликовости и… …   Медицинские термины

  • ЛИПОХОНДРОДИСТРОФИЯ — (lipochondrodystrophy) множественные врожденные дефекты, связанные с врожденными нарушениями липидного (жирового) обмена, поражением хрящевой и костной ткани, кожи, а также различных внутренних органов и приводящие к задержке умственного развития …   Толковый словарь по медицине

  • mucopolysaccharidosis — Any of a group of lysosomal storage diseases that have in common a disorder in metabolism of mucopolysaccharides, as evidenced by excretion of various mucopolysaccharides in urine and infiltration of these substances into connective tissue, with… …   Medical dictionary

  • syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary

  • dysostosis multiplex — noun 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: ↑Hurler s syndrome, ↑Hurler s …   Useful english dictionary

  • Hurler's disease — noun 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: ↑Hurler s syndrome,… …   Useful english dictionary

  • monogenic disease — noun an inherited disease controlled by a single pair of genes • Syn: ↑monogenic disorder • Hypernyms: ↑genetic disease, ↑genetic disorder, ↑genetic abnormality, ↑genetic defect, ↑congenital disease, ↑ …   Useful english dictionary

  • monogenic disorder — noun an inherited disease controlled by a single pair of genes • Syn: ↑monogenic disease • Hypernyms: ↑genetic disease, ↑genetic disorder, ↑genetic abnormality, ↑genetic defect, ↑congenital disease, ↑ …   Useful english dictionary

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