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Nervous System Diseases > Neurocutaneous Syndromes > Tuberous Sclerosis
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Skin Abnormalities > Ectodermal Dysplasia > Neurocutaneous Syndromes > Tuberous Sclerosis
... > Skin and Connective Tissue Diseases > Skin Diseases > Skin Abnormalities > Ectodermal Dysplasia > Neurocutaneous Syndromes > Tuberous Sclerosis
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Ectodermal Dysplasia > Neurocutaneous Syndromes > Tuberous Sclerosis
... > Skin and Connective Tissue Diseases > Skin Diseases > Skin Diseases, Genetic > Ectodermal Dysplasia > Neurocutaneous Syndromes > Tuberous Sclerosis
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Skin Diseases, Genetic > Ectodermal Dysplasia > Neurocutaneous Syndromes > Tuberous Sclerosis
Neoplasms > Neoplastic Syndromes, Hereditary > Tuberous Sclerosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Neoplastic Syndromes, Hereditary > Tuberous Sclerosis
Neoplasms > Hamartoma > Tuberous Sclerosis
Neoplasms > Neoplasms, Multiple Primary > Tuberous Sclerosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Heredodegenerative Disorders, Nervous System > Tuberous Sclerosis
Nervous System Diseases > Neurodegenerative Diseases > Heredodegenerative Disorders, Nervous System > Tuberous Sclerosis
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Nervous System Malformations > Malformations of Cortical Development > Malformations of Cortical Development, Group I > Tuberous Sclerosis
Nervous System Diseases > Nervous System Malformations > Malformations of Cortical Development > Malformations of Cortical Development, Group I > Tuberous Sclerosis

Preferred term

Tuberous Sclerosis  

Type

  • Topical Descriptor

Broader concept

Related concepts

Entry terms

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

Scope note

  • 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.

In other languages

  • tuberoosiskleroosi

    Finnish

  • Bournevillen tauti
  • Bournville
  • epiloia
  • morbus Bourneville
  • morbus Bournville
  • morbus Pringle
  • Pringle
  • Pringlen tauti
  • sclerosis tuberosa
  • tuberoosi skleroosi
  • tuberoskleroosi
  • Tuberös skleros

    Swedish

  • Adenoma sebaceum
  • Bournevilles sjukdom
  • Cerebral scleros
  • Tuberös skleroskomplexet

URI

http://www.yso.fi/onto/mesh/D014402

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