loading...| Preferred Name |
Klippel-Trenaunay-Weber Syndrome |
|
| Synonyms |
Syndromes, Angio-Osteohypertrophy |
|
| Definitions |
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. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D007715 |
|
| altLabel |
Syndromes, Angio-Osteohypertrophy Syndromes, Klippel-Trenaunay Syndrome, Angioosteohypertrophy Klippel-Trenaunay Syndrome Angio-Osteohypertrophy Syndrome Disease, Klippel-Trenaunay Syndrome, Angio-Osteohypertrophy Congenital Dysplastic Angiopathies Dysplastic Angiopathy, Congenital Congenital Dysplastic Angiopathy Klippel-Trenaunay Disease Syndromes, KTW Syndrome, Klippel-Trenaunay-Weber Klippel Trénaunay Weber Syndrome KTW Syndrome Angiopathy, Congenital Dysplastic Syndromes, Angioosteohypertrophy Angioosteohypertrophy Syndrome Angio-Osteohypertrophy Syndromes Klippel Trenaunay Weber Syndrome Dysplastic Angiopathies, Congenital Angio Osteohypertrophy Syndrome KTW Syndromes Angioosteohypertrophy Syndromes Klippel Trenaunay Disease Klippel Trenaunay Syndrome Klippel-Trénaunay-Weber Syndrome Syndrome, Klippel-Trénaunay-Weber Syndrome, Klippel-Trenaunay Klippel-Trenaunay Syndromes Syndrome, Klippel Trenaunay Syndrome, KTW Angiopathies, Congenital Dysplastic |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C0022739 |
|
| DC |
1 |
|
| 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. |
|
| DX |
19910101 |
|
| HN |
94; was KLIPPEL-TRENAUNAY DISEASE 1975-93 (see under ANGIOMATOSIS 1975-90) |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Machine permutation |
94; was KLIPPEL-TRENAUNAY DISEASE 1975-93 (see under ANGIOMATOSIS 1975-90) |
|
| Mapped from | ||
| MDA |
19990101 |
|
| MMR |
20130708 |
|
| MN |
C14.907.077.410 |
|
| notation |
D007715 |
|
| OL |
use KLIPPEL-TRENAUNAY-WEBER SYNDROME to search KLIPPEL-TRENAUNAY DISEASE 1975-93; search ANGIOMATOSIS 1966-74 |
|
| prefLabel |
Klippel-Trenaunay-Weber Syndrome |
|
| TERMUI |
T023152 T023153 T841831 T768970 T841830 T811683 T768969 T769310 T844342 |
|
| TH |
OMIM (2013) NLM (1975) NLM (1994) GHR (2014) NLM (2014) NLM (2011) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |