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AttributesValues
rdf:type
rdfs:label
  • Hurler Syndrome
rdfs:subClassOf
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Hurler Syndrome
UMLS_CUI
  • C0086795
Legacy_Concept_Name
  • Hurler_Syndrome
FULL_SYN
  • Hurler SyndromePTNCI
DEFINITION
  • An autosomal recessive inherited disorder of mucopolysaccharide metabolism. It is the most severe form of mucopolysaccharidosis type I. It is characterized by deficiency of the enzyme alpha-L-iduronidase resulting in the accumulation of mucopolysaccharides in the tissues.NCI
code
  • C61261
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