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

Terme préférentiel

Tuberous Sclerosis  

Type

  • mesh:Descriptor

Définition

  • 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. Facial ANGIOFIBROMA in tuberous sclerosis

Concept générique

Concepts associés

Synonyme(s)

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

Qualificatif(s) autorisé(s)

Traductions

  • Complexe de la sclérose tubéreuse

    français

  • Epilepsy-low intelligence-adenoma sebaceum
  • Epiloïa
  • Maladie de Bourneville
  • Maladie de Bourneville-Pringle
  • Phacomatose de Bourneville
  • Sclérose tubéreuse de Bourneville
  • Sclérose tubéreuse du cerveau
  • STB (Sclérose Tubéreuse de Bourneville)
  • Syndrome de Bourneville

URI

http://data.loterre.fr/ark:/67375/JVR-WLDDD91P-J

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RDF/XML TURTLE JSON-LD Date de création 01/01/1999, dernière modification le 29/06/2018