Concept information
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Heredodegenerative Disorders, Nervous System
Mental Retardation, X-Linked
Nervous System Diseases
Neurodegenerative Diseases
Heredodegenerative Disorders, Nervous System
Mental Retardation, X-Linked
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Mental Retardation, X-Linked
Behavior and Behavior Mechanisms
Neurobehavioral Manifestations
Intellectual Disability
Mental Retardation, X-Linked
...
Neurologic Manifestations
Neurobehavioral Manifestations
Intellectual Disability
Mental Retardation, X-Linked
...
Neurologic Manifestations
Neurobehavioral Manifestations
Intellectual Disability
Mental Retardation, X-Linked
...
Metabolic Diseases
Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors
Mucopolysaccharidoses
Preferred term
Mucopolysaccharidosis II
Type
-
Topical Descriptor
Broader concept
Entry terms
- Gargoylism, Hunter Syndrome
- Hunter's Syndrome
- Hunters Syndrome
- Hunter Syndrome
- Hunter Syndrome Gargoylism
- Mucopolysaccharidosis 2
- Mucopolysaccharidosis Type 2
- Mucopolysaccharidosis Type II
- Syndrome, Hunter
- Syndrome, Hunter's
Scope note
- 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.
History note
- 1992; for MUCOPOLYSACCHARIDOSIS 2 and HUNTER'S SYNDROME use LIPOCHONDRODYSTROPHY 1976-1991
In other languages
-
Finnish
-
Hunter
-
Hunterin oireyhtymä
-
Hunterin syndrooma
-
Hunters syndrom
-
II tyypin mukopolysakkaridoosi
-
mucopolysaccharidosis II
-
mucopolysaccharidosis typus II
-
mukopolysackaridos, typ II
-
syndroma Hunter
-
Swedish
-
Hunters syndrom
-
Iduronatsulfatasbrist
-
MPS II
URI
http://www.yso.fi/onto/mesh/D016532
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