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... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Mucopolysaccharidoses > Mucopolysaccharidosis II
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Mucopolysaccharidoses > Mucopolysaccharidosis II
Skin and Connective Tissue Diseases > Connective Tissue Diseases > Mucinoses > Mucopolysaccharidoses > Mucopolysaccharidosis II
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Mucopolysaccharidoses > Mucopolysaccharidosis II
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Mucopolysaccharidoses > Mucopolysaccharidosis II
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Genetic Diseases, X-Linked > Mental Retardation, X-Linked > Mucopolysaccharidosis II
... > Nervous System Diseases > Neurologic Manifestations > Neurobehavioral Manifestations > Intellectual Disability > Mental Retardation, X-Linked > Mucopolysaccharidosis II
... > Pathological Conditions, Signs and Symptoms > Signs and Symptoms > Neurologic Manifestations > Neurobehavioral Manifestations > Intellectual Disability > Mental Retardation, X-Linked > Mucopolysaccharidosis II
Behavior and Behavior Mechanisms > Neurobehavioral Manifestations > Intellectual Disability > Mental Retardation, X-Linked > Mucopolysaccharidosis II
Mental Disorders > Neurodevelopmental Disorders > Intellectual Disability > Mental Retardation, X-Linked > Mucopolysaccharidosis II
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Heredodegenerative Disorders, Nervous System > Mental Retardation, X-Linked > Mucopolysaccharidosis II
Nervous System Diseases > Neurodegenerative Diseases > Heredodegenerative Disorders, Nervous System > Mental Retardation, X-Linked > Mucopolysaccharidosis II

Terme préférentiel

Mucopolysaccharidosis II  

Type

  • mesh:Descriptor

Définition

  • 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.

Concept générique

Concepts associés

Synonyme(s)

  • Gargoylism, Hunter Syndrome
  • Hunter's Syndrome
  • Hunter Syndrome
  • Hunter Syndrome Gargoylism
  • Mucopolysaccharidosis 2
  • Mucopolysaccharidosis Type 2
  • Mucopolysaccharidosis Type II

Qualificatif(s) autorisé(s)

Traductions

  • Mucopolysaccharidose de type II

    français

  • Déficite en iduronate 2-sulfatase
  • MPS II
  • Mucopolysaccharidose de Hunter
  • Mucopolysaccharidose de type 2
  • Syndrome de Hunter

URI

http://data.loterre.fr/ark:/67375/JVR-S2Q03VHJ-L

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RDF/XML TURTLE JSON-LD Date de création 21/06/1991, dernière modification le 01/07/2018