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AttributesValues
rdf:type
rdfs:label
  • Tay-Sachs Disease
rdfs:subClassOf
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Tay-Sachs Disease
UMLS_CUI
  • C0039373
FULL_SYN
  • Tay-Sachs DiseasePTNCI
DEFINITION
  • A rare, fatal, autosomal recessive lipid storage disorder caused by mutations in the HEXA gene. It is characterized by deficiency of beta-hexosaminidase A, resulting in accumulation of gangliosides in the neurons of the brain and spinal cord. Signs and symptoms include progressive deterioration of the mental and physical abilities early in life, accompanied by blindness, deafness, muscle atrophy, and paralysis.NCI
code
  • C85184
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