Tuberous sclerosis (Q46688): Difference between revisions
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Doença causada por uma mutação dominante de 9q34 (TSC1) ou 16p13 (TSC2). Esta doença pode se manifestar com angiofibromas faciais, tumores de Koenen, placas fibrosas na testa e couro cabeludo, angiomiolipomas renais, nódulos subependimários, múltiplos tubérculos corticais ou hamartoma retinal, epilepsia ou atraso mental. | |||
| description / en | description / en | ||
A disease caused by a dominant mutation of 9q34 (TSC1) or 16p13 (TSC2). This disease may present with facial angiofibromas, Koenen tumours, fibrous plaques on the forehead and scalp, renal angiomyolipomas, subependymal nodules, multiple cortical tubers or retinal hamartoma, epilepsy, or mental retardation. | |||
Revision as of 15:27, 13 August 2026
A disease caused by a dominant mutation of 9q34 (TSC1) or 16p13 (TSC2). This disease may present with facial angiofibromas, Koenen tumours, fibrous plaques on the forehead and scalp, renal angiomyolipomas, subependymal nodules, multiple cortical tubers or retinal hamartoma, epilepsy, or mental retardation.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | LD2D.2 |
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| English | Tuberous sclerosis |
A disease caused by a dominant mutation of 9q34 (TSC1) or 16p13 (TSC2). This disease may present with facial angiofibromas, Koenen tumours, fibrous plaques on the forehead and scalp, renal angiomyolipomas, subependymal nodules, multiple cortical tubers or retinal hamartoma, epilepsy, or mental retardation. |
