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dysostosis multiplex
Thesaurus| Noun | 1. | dysostosis multiplex - hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism; characterized by severe abnormalities in development of skeletal cartilage and bone and mental retardationgargoylism, Hurler's disease, Hurler's syndrome, lipochondrodystrophymonogenic disease, monogenic disorder - an inherited disease controlled by a single pair of genesmucopolysaccharidosis - 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 |
dysostosis multiplex
dys·os·to·sis mul·'ti·plexspecific pattern of radiographic changes observed in many lysosomal storage disorders.dysostosis multiplex (1) A nonspecific term for various mucopolysaccharidoses.
(2) Mucopolysaccharidosis IH (MPS IH), also known as Hurler syndrome.
(3) Mucopolysaccharidosis VI (MPS VI).Hurler, Gertrud, German pediatrician, 1889-1965. Hurler disease - Synonym(s): Hurler syndromeHurler syndrome - mucopolysaccharidosis with severe abnormality in development of skeletal cartilage and bone, corneal clouding, hepatosplenomegaly, mental retardation, and gargoyle-like facies. Synonym(s): dysostosis multiplex; Hurler disease; lipochondrodystrophy; Pfaundler-Hurler syndrome; type IH mucopolysaccharidosisPfaundler-Hurler syndrome - Synonym(s): Hurler syndromedys·os·to·sis mul·ti·plex (dis-ŏs-tōsis multē-pleks) Specific pattern of radiographic changes observed in many lysosomal storage disorders. dysostosis multiplex
Synonyms for dysostosis multiplexnoun hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolismSynonyms- gargoylism
- Hurler's disease
- Hurler's syndrome
- lipochondrodystrophy
Related Words- monogenic disease
- monogenic disorder
- mucopolysaccharidosis
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