Sanfilippo syndrome (Q2200359)

From Wikidata
Jump to navigation Jump to search
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
  • Mucopolysaccharidosis type III
  • Sanfilippo disease
  • MPSIII
  • MPS3
  • Sanfilippo Syndrome
edit
Language Label Description Also known as
English
Sanfilippo syndrome
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
  • Mucopolysaccharidosis type III
  • Sanfilippo disease
  • MPSIII
  • MPS3
  • Sanfilippo Syndrome

Statements

instance of
rare disease
0 references
class of disease
0 references
image
Hadar Sanfilippo.jpg
1,223 × 1,223; 283 KB
media legend
Nena de 12 anys amb síndrome de Sanfilippo tipus A (Catalan)
0 references
Commons category
Sanfilippo syndrome
0 references

Identifiers

KEGG ID
H00130
0 references
GARD rare disease ID
3807
0 references
Mondo ID
MONDO_0018937
0 references
 
edit
edit
    edit
      edit
        edit
          edit
            edit
              edit
                edit
                Retrieved from "https://www.wikidata.org/w/index.php?title=Q2200359&oldid=2087183133"