Lymphoedema-distichiasis syndrome (Q99502): Difference between revisions
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Condição autossômica dominante com linfedema hereditário de membros inferiores e distiquíase, uma fileira dupla de cílios. Este último pode resultar em irritação da córnea. Mutações no gene FOXC2 estão implicadas nesta condição. Até um terço tem ptose associada. | |||
| description / en | description / en | ||
An autosomal dominant condition with hereditary lower limb lymphoedema and distichiasis, a double row of eyelashes. The latter can result in corneal irritation. Mutations in the FOXC2 gene are implicated in this condition. Up to one third have associated ptosis. | |||
Revision as of 16:10, 16 August 2026
An autosomal dominant condition with hereditary lower limb lymphoedema and distichiasis, a double row of eyelashes. The latter can result in corneal irritation. Mutations in the FOXC2 gene are implicated in this condition. Up to one third have associated ptosis.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_992321940 |
||
| English | Lymphoedema-distichiasis syndrome |
An autosomal dominant condition with hereditary lower limb lymphoedema and distichiasis, a double row of eyelashes. The latter can result in corneal irritation. Mutations in the FOXC2 gene are implicated in this condition. Up to one third have associated ptosis. |
