About: Multiple Sulfatase Deficiency Disease     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • Multiple Sulfatase Deficiency Disease
rdfs:subClassOf
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Multiple Sulfatase Deficiency Disease
UMLS_CUI
  • C0268263
FULL_SYN
  • Multiple Sulfatase Deficiency DiseasePTNCI
DEFINITION
  • A rare autosomal recessive lysosomal storage disease caused by mutations in SUMF1 gene. It is characterized by deficiency of all sulfatase enzymes. Signs and symptoms include neurologic damage, mental retardation, skeletal abnormalities, hepatosplenomegaly, and ichthyosis.NCI
code
  • C84908
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