dysostosis multiplex

Noun
  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 (synset 114180645)
    is a type of:
    • monogenic disease, monogenic disorder - 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
    same as: gargoylism, hurler's disease, hurler's syndrome, lipochondrodystrophy

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