Concept information
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Genetic Diseases, Inborn
Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors
Mucopolysaccharidoses
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Metabolic Diseases
Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors
Mucopolysaccharidoses
...
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Lysosomal Storage Diseases
Mucopolysaccharidoses
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Mental Retardation, X-Linked
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Neurologic Manifestations
Neurobehavioral Manifestations
Intellectual Disability
Mental Retardation, X-Linked
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Neurologic Manifestations
Neurobehavioral Manifestations
Intellectual Disability
Mental Retardation, X-Linked
Behavior and Behavior Mechanisms
Neurobehavioral Manifestations
Intellectual Disability
Mental Retardation, X-Linked
Preferred term
Mucopolysaccharidosis II
Type
-
mesh:Descriptor
Definition
- Systemic lysosomal storage disease marked by progressive physical deterioration and caused by a deficiency of L-sulfoiduronate sulfatase. This disease differs from MUCOPOLYSACCHARIDOSIS I by slower progression, lack of corneal clouding, and X-linked rather than autosomal recessive inheritance. The mild form produces near-normal intelligence and life span. The severe form usually causes death by age 15.
Broader concept
Entry terms
- Gargoylism, Hunter Syndrome
- Hunter's Syndrome
- Hunter Syndrome
- Hunter Syndrome Gargoylism
- Mucopolysaccharidosis 2
- Mucopolysaccharidosis Type 2
- Mucopolysaccharidosis Type II
Allowable Qualifier(s)
- blood (Qualifier)
- cerebrospinal fluid (Qualifier)
- chemically induced (Qualifier)
- classification (Qualifier)
- complications (Qualifier)
- diagnosis (Qualifier)
- diagnostic imaging (Qualifier)
- diet therapy (Qualifier)
- drug therapy (Qualifier)
- economics (Qualifier)
- embryology (Qualifier)
- enzymology (Qualifier)
- epidemiology (Qualifier)
- ethnology (Qualifier)
- etiology (Qualifier)
- genetics (Qualifier)
- history (Qualifier)
- immunology (Qualifier)
- metabolism (Qualifier)
- microbiology (Qualifier)
- mortality (Qualifier)
- nursing (Qualifier)
- parasitology (Qualifier)
- pathology (Qualifier)
- physiopathology (Qualifier)
- prevention & control (Qualifier)
- psychology (Qualifier)
- radiotherapy (Qualifier)
- rehabilitation (Qualifier)
- surgery (Qualifier)
- therapy (Qualifier)
- urine (Qualifier)
- veterinary (Qualifier)
- virology (Qualifier)
In other languages
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French
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Déficite en iduronate 2-sulfatase
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MPS II
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Mucopolysaccharidose de Hunter
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Mucopolysaccharidose de type 2
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Syndrome de Hunter
URI
http://data.loterre.fr/ark:/67375/JVR-S2Q03VHJ-L
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