Mucopolysaccharidosis V

Source:http://linkedlifedata.com/resource/umls/id/C0026708

NCI: An autosomal recessive disorder representing the milder form of mucopolysaccharidosis type I. It is characterized by deficiency of the enzyme alpha-L-iduronidase. Signs and symptoms include broad mouth with full lips, cloudy cornea which may lead to blindness, stiff joints, and hirsutism.

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