Sanfilippo syndrome (Q2200359)

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A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain.
  • mucopolysaccharidosis III
  • HEPARAN SULFATE SULFATASE DEFICIENCY
  • MPS IIIA - Sanfilippo syndrome A
  • MPS IIIB - Sanfilippo syndrome B
  • MPS IIIC - Sanfilippo syndrome C
  • MPS IIID - Sanfilippo syndrome D
  • Mucopolysaccharidosis, MPS-III
  • Mucopolysaccharidosis, MPS-III-B (disorder)
  • N-ACETYL-ALPHA-D-GLUCOSAMINIDASE DEFICIENCY
  • N-sulphoglucosamine sulphohydrolase deficiency
  • NAGLU DEFICIENCY
  • SANFILIPPO SYNDROME A
  • SANFILIPPO SYNDROME B
  • Sanfilippo's syndrome
  • mucopolysaccharidosis type IIIA
  • mucopolysaccharidosis type IIIB
  • MPS III
  • Mucopolysaccharidosis, MPS-III-B
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Language Label Description Also known as
English
Sanfilippo syndrome
A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain.
  • mucopolysaccharidosis III
  • HEPARAN SULFATE SULFATASE DEFICIENCY
  • MPS IIIA - Sanfilippo syndrome A
  • MPS IIIB - Sanfilippo syndrome B
  • MPS IIIC - Sanfilippo syndrome C
  • MPS IIID - Sanfilippo syndrome D
  • Mucopolysaccharidosis, MPS-III
  • Mucopolysaccharidosis, MPS-III-B (disorder)
  • N-ACETYL-ALPHA-D-GLUCOSAMINIDASE DEFICIENCY
  • N-sulphoglucosamine sulphohydrolase deficiency
  • NAGLU DEFICIENCY
  • SANFILIPPO SYNDROME A
  • SANFILIPPO SYNDROME B
  • Sanfilippo's syndrome
  • mucopolysaccharidosis type IIIA
  • mucopolysaccharidosis type IIIB
  • MPS III
  • Mucopolysaccharidosis, MPS-III-B

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