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An Entity of Type : owl:Class, within Data Space : linked.opendata.cz:8890 associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • Sandhoff Disease
rdfs:subClassOf
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Sandhoff Disease
UMLS_CUI
  • C0036161
FULL_SYN
  • Sandhoff DiseasePTNCI
DEFINITION
  • An autosomal recessive inherited lysosomal storage disorder caused by mutations in the HEXB gene. It is characterized by deficiency of the enzyme hexosaminidase, resulting in the accumulation of gangiosides in the central nervous system and other body tissues. Signs and symptoms include progressive motor and mental deterioration, early blindness, macrocephaly, seizures, and hepatosplenomegaly.NCI
code
  • C85052
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