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Illness finder is a diagnostic medicine tool for educational purpose that looks up your patients' health conditions or symptoms and diagnosis and find diseases or illnesses based on chosen gender, age, risk factors, illness, signs, symptoms and prevalence. Illnessfinder is inspired by Evidence based medicine (EMB) and healthcare that aims to apply the best (most reliable) knowledge that is available at decision time. Illnessfinder aims to free up time for the therapeutic dialogue and ensure quality at the evidence based practice, uniting proven medical findings and clinical evidence with systematised data technology.
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| Mucopolysaccharidosis I | Legal notice |
Other terms
Lipochondrodystrophy,Lipochondrodystrophies,Mucopolysaccharidosis 1,Scheie Syndrome,Syndrome, Scheie,Syndromes, Scheie,Scheie's Syndrome,Syndrome, Scheie's,Mucopolysaccharidosis IS,Mucopolysaccharidosis V,Mucopolysaccharidosis 5,Mucopolysaccharidosis I-S,Mucopolysaccharidosis I S,Hurler-Scheie Syndrome,Hurler Scheie Syndrome,Syndrome, Hurler-Scheie,alpha-L-Iduronidase Deficiency,Deficiencies, alpha-L-Iduronidase,Deficiency, alpha-L-Iduronidase,alpha L Iduronidase Deficiency,alpha-L-Iduronidase Deficiencies,Gargoylism, Hurler Syndrome,Hurler Syndrome Gargoylism,Pfaundler-Hurler Syndrome,Pfaundler Hurler Syndrome,Syndrome, Pfaundler-Hurler,Hurler's Syndrome,Hurler Syndrome,Hurlers Syndrome,Syndrome, Hurler's,Hurler Disease,Disease, Hurler,Hurler's Disease,Disease, Hurler's,Hurlers Disease
Description
Mucopolysaccharidosis I: Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (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. Hunter syndrome (MUCOPOLYSACCHARIDOSIS II) and Hurler syndrome were each originally called "gargoylism" because of the coarseness of the facial features of affected individuals.
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The version of the data is 2010 MeSH. Last reviewed April 26, 2010. No modification has been made in the content of the file.
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