Disease ID | Source | Name | Description |
149000 | OMIM | Klippel-Trenaunay syndrome (KTS) | Congenital disease characterized by malformations of capillary (98% of KTS patients), venous (72%) and lymphatic (11%) vessels, and bony and soft tissue hypertrophy that leads to large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues. The disease is caused by variants affecting the gene represented in this entry. |