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DeCS
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Descriptor English:
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Tuberous Sclerosis
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Descriptor Spanish:
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Esclerosis Tuberosa
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Descriptor Portuguese:
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Esclerose Tuberosa
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Synonyms English:
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Adenoma Sebaceum
Bourneville Disease
Bourneville Phacomatosis
Bourneville Phakomatosis
Bourneville Pringle Disease
Bourneville Pringle's Disease
Bourneville Syndrome
Bourneville's Disease
Bourneville's Syndrome
Bourneville-Pringle Disease
Bourneville-Pringle's Disease
Bourneville-Pringles Disease
Cerebral Scleroses
Cerebral Sclerosis
Disease, Bourneville-Pringle
Disease, Bourneville-Pringle's
Epiloia
Phacomatosis, Bourneville
Phakomatosis, Bourneville
Sclerosis Tuberosa
Sclerosis, Cerebral
Sclerosis, Tuberose
Sclerosis, Tuberous
Syndrome, Bourneville
Syndrome, Bourneville's
Tuberose Sclerosis
Tuberous Sclerosis Complex
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Tree Number:
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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
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Definition English:
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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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Allowable Qualifiers English:
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Record Number:
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14804
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Unique Identifier:
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D014402
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Occurrence in VHL:
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Similar:
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DeCS
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