loading...| Preferred Name |
Klippel-Trenaunay-Weber Syndrome [Disease/Finding] |
|
| Synonyms |
Klippel-Trenaunay Syndrome |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000001761 |
|
| altLabel |
Klippel-Trenaunay Syndrome Angio-Osteohypertrophy Syndrome Klippel-Trenaunay-Weber Syndrome Congenital Dysplastic Angiopathy Klippel-Trenaunay Disease KTW Syndrome Angioosteohypertrophy Syndrome Klippel Trenaunay Syndrome Klippel-Trénaunay-Weber Syndrome |
|
| cui |
C0022739 |
|
| MESH DEFINITION |
A congenital disorder that is characterized by a triad of capillary malformations (HEMANGIOMA), venous malformations (ARTERIOVENOUS FISTULA), and soft tissue or bony hypertrophy of the limb. This syndrome is caused by mutations in the VG5Q gene which encodes a strong angiogenesis stimulator. |
|
| MESH DUI |
D007715 |
|
| MeSH name |
Klippel-Trenaunay-Weber Syndrome |
|
| MESH UI |
M0012064 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000001761 |
|
| NUI |
N0000001761 |
|
| prefLabel |
Klippel-Trenaunay-Weber Syndrome [Disease/Finding] |
|
| SNOMED CID |
59078009 |
|
| tui |
T047 |
|
| subClassOf |