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Skin and Connective Tissue Diseases > Connective Tissue Diseases > Mucinoses > Mucopolysaccharidoses > Mucopolysaccharidosis III
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Mucopolysaccharidoses > Mucopolysaccharidosis III
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Mucopolysaccharidoses > Mucopolysaccharidosis III
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Mucopolysaccharidoses > Mucopolysaccharidosis III
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Carbohydrate Metabolism, Inborn Errors > Mucopolysaccharidoses > Mucopolysaccharidosis III

Preferred term

Mucopolysaccharidosis III  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • Mucopolysaccharidosis 3
  • Oligophrenia, Polydystrophic
  • Oligophrenias, Polydystrophic
  • Polydystrophic Oligophrenia
  • Polydystrophic Oligophrenias
  • San Filippo's Syndrome
  • San Filippos Syndrome
  • Sanfilippo's Syndrome
  • Sanfilippos Syndrome
  • San Filippo Syndrome
  • Sanfilippo Syndrome
  • Sanfilippo Syndromes
  • Syndrome, Sanfilippo
  • Syndrome, San Filippo's
  • Syndrome, Sanfilippo's
  • Syndromes, Sanfilippo

Scope note

  • Mucopolysaccharidosis characterized by heparitin sulfate in the urine, progressive mental retardation, mild dwarfism, and other skeletal disorders. There are four clinically indistinguishable but biochemically distinct forms, each due to a deficiency of a different enzyme.

History note

  • 92; was MUCOPOLYSACCHARIDOSIS 3 1991; was see under MUCOPOLYSACCHARIDOSIS 1975-90

In other languages

URI

http://www.yso.fi/onto/mesh/D009084

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