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Tuberous Sclerosis

Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules). There is, however, considerable heterogeneity in the neurologic manifestations. It is also associated with cortical tuber and HAMARTOMAS formation throughout the body, especially the heart, kidneys, and eyes. Mutations in two loci TSC1 and TSC2 that encode hamartin and tuberin, respectively, are associated with the disease.

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Tree Number(s): C04.445.810, C04.651.800, C04.700.700, C10.500.507.400.750, C10.562.850, C10.574.500.865, C16.131.666.507.400.750, C16.320.400.880, C16.320.700.700

MeSH Unique ID: D014402

Entry Terms:

  • Sclerosis, Tuberous
  • Bourneville Phakomatosis
  • Bourneville Syndrome
  • Syndrome, Bourneville
  • Bourneville's Disease
  • Bourneville's Syndrome
  • Syndrome, Bourneville's
  • Bourneville-Pringle Disease
  • Bourneville Pringle Disease
  • Disease, Bourneville-Pringle
  • Bourneville-Pringle's Disease
  • Bourneville Pringle's Disease
  • Bourneville-Pringles Disease
  • Disease, Bourneville-Pringle's
  • Cerebral Sclerosis
  • Cerebral Scleroses
  • Sclerosis, Cerebral
  • Epiloia
  • Phacomatosis, Bourneville
  • Bourneville Phacomatosis
  • Phakomatosis, Bourneville
  • Sclerosis Tuberosa
  • Tuberose Sclerosis
  • Sclerosis, Tuberose
  • Tuberous Sclerosis Complex
  • Bourneville Disease
  • Adenoma Sebaceum

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