Concept information
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Genetic Diseases, Inborn
Metabolism, Inborn Errors
Lysosomal Storage Diseases
Mucopolysaccharidoses
Preferred term
Mucopolysaccharidosis VI
Type
-
Topical Descriptor
Broader concept
Entry terms
- ARSB Deficiencies
- ARSB Deficiency
- Arylsulfatase B Deficiencies
- Arylsulfatase B Deficiency
- Deficiencies, ARSB
- Deficiencies, Arylsulfatase B
- Deficiencies, N-Acetylgalactosamine-4-Sulfatase
- Deficiency, ARSB
- Deficiency, Arylsulfatase B
- Deficiency, N-Acetylgalactosamine-4-Sulfatase
- Dwarfism, Polydystrophic
- Maroteaux Lamy Syndrome
- Maroteaux-Lamy Syndrome
- Mucopolysaccharidosis 6
- Mucopolysaccharidosis Type 6
- Mucopolysaccharidosis Type VI
- N-Acetylgalactosamine-4-Sulfatase Deficiencies
- N-Acetylgalactosamine-4-Sulfatase Deficiency
- Polydystrophic Dwarfism
- Syndrome, Maroteaux-Lamy
- Type 6, Mucopolysaccharidosis
- Type VI, Mucopolysaccharidosis
Scope note
- Mucopolysaccharidosis with excessive CHONDROITIN SULFATE B in urine, characterized by dwarfism and deafness. It is caused by a deficiency of N-ACETYLGALACTOSAMINE-4-SULFATASE (arylsulfatase B).
History note
- 92; was MUCOPOLYSACCHARIDOSIS 6 1991; was see under MUCOPOLYSACCHARIDOSIS 1975-90
In other languages
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Finnish
-
mucopolysaccharidosis VI
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Swedish
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Maroteaux-Lamys syndrom
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MPS VI
URI
http://www.yso.fi/onto/mesh/D009087
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