Id http://purl.bioontology.org/ontology/CSP/1849-6334
http://purl.bioontology.org/ontology/CSP/1849-6334
Preferred Name

mucopolysaccharidosis type I

Definitions
autosomal recessive systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase and characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate; there are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler's syndrome, Hurler-Scheie syndrome and Scheie's syndrome (formerly mucopolysaccharidosis V); symptoms may include dwarfism, hepatosplenomegaly, gargoyle-like facies, corneal clouding, cardiac complications, and noisy breathing.
Synonyms
mucolipidosis I
lipomucopolysaccharidosis
Hurler syndrome
iduronidase deficiency disease
gargoylism
lipochondrodystrophy
Type http://www.w3.org/2002/07/owl#Class
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