epiloia

tu·ber·ous scle·ro·sis

[MIM*191100] phacomatosis characterized by the formation of multisystemic hamartomas producing seizures, mental retardation, and angiofibromas of the face; the cerebral and retinal lesions are glial nodules; other skin lesions are hypopigmented macules, shagreen patches, and periungual fibromas; autosomal dominant inheritance with variable expression, caused by mutation in either the tuberous sclerosis gene (TSC1) on chromosome 9q or TSC2 on 16p. Synonym(s): Bourneville disease, epiloia

epiloia

A rare genetic congenital disorder, also called tuberous sclerosis or BOURNEVILLE DISEASE, in which the brain, the skin and other organs become studded with knobbly tumours derived from an abnormal overgrowth of primitive cell tissue. Epiloia occurs either as a result of a dominant gene or as a mutation, and affects about 1 baby in 20 000.

tu·ber·ous scle·ro·sis

(tūbĕr-ŭs skler-ōsis) [MIM*191100] Phacomatosis characterized by the formation of multisystemic hamartomas producing seizures, mental retardation, and angiofibromas of the face.
Synonym(s): Bourneville disease, epiloia.

单词	epiloia
释义	DictionarySeetuberous sclerosis epiloia tu·ber·ous scle·ro·sis [MIM191100] phacomatosis characterized by the formation of multisystemic hamartomas producing seizures, mental retardation, and angiofibromas of the face; the cerebral and retinal lesions are glial nodules; other skin lesions are hypopigmented macules, shagreen patches, and periungual fibromas; autosomal dominant inheritance with variable expression, caused by mutation in either the tuberous sclerosis gene (TSC1) on chromosome 9q or TSC2* on 16p. Synonym(s): Bourneville disease, epiloia epiloia A rare genetic congenital disorder, also called tuberous sclerosis or BOURNEVILLE DISEASE, in which the brain, the skin and other organs become studded with knobbly tumours derived from an abnormal overgrowth of primitive cell tissue. Epiloia occurs either as a result of a dominant gene or as a mutation, and affects about 1 baby in 20 000. tu·ber·ous scle·ro·sis (tūbĕr-ŭs skler-ōsis) [MIM*191100] Phacomatosis characterized by the formation of multisystemic hamartomas producing seizures, mental retardation, and angiofibromas of the face. Synonym(s): Bourneville disease, epiloia. ThesaurusSeedisease
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