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Concept information

disease > genetic disease > hereditary disease > mucopolysaccharidosis > Sanfilippo disease
disease > diseases of the osteoarticular system > mucopolysaccharidosis > Sanfilippo disease
disease > metabolic diseases > mucopolysaccharidosis > Sanfilippo disease
disease > enzymopathy > mucopolysaccharidosis > Sanfilippo disease

Terme préférentiel

Sanfilippo disease  

Définition(s)

  • Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare autosomal recessive lysosomal storage disease that primarily affects the brain and spinal cord. (Wikipedia)

Concept(s) générique(s)

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URI

http://data.loterre.fr/ark:/67375/VH8-V56ZG060-D

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RDF/XML TURTLE JSON-LD Dernière modif. 14/05/2020