loading...| Preferred Name |
Klippel-Trenaunay-Weber Syndrome |
| Synonyms |
Angioosteohypertrophy Syndromes |
| 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 |
Angioosteohypertrophy Syndromes Syndromes, Angio-Osteohypertrophy Klippel Trénaunay Weber Syndrome Syndrome, Klippel-Trenaunay-Weber Klippel-Trénaunay-Weber Syndrome Dysplastic Angiopathies, Congenital Angiopathies, Congenital Dysplastic Angio-Osteohypertrophy Syndromes KTW Syndrome Klippel Trenaunay Syndrome Syndrome, Klippel Trenaunay Syndromes, Klippel-Trenaunay Angioosteohypertrophy Syndrome Syndrome, KTW Congenital Dysplastic Angiopathies KTW Syndromes Angio Osteohypertrophy Syndrome Syndrome, Angioosteohypertrophy Klippel Trenaunay Weber Syndrome Disease, Klippel-Trenaunay Klippel-Trenaunay Syndromes Klippel-Trenaunay Disease Syndrome, Klippel-Trenaunay Syndromes, Angioosteohypertrophy Klippel Trenaunay Disease Syndromes, KTW Klippel-Trenaunay Syndrome Syndrome, Angio-Osteohypertrophy Angio-Osteohypertrophy Syndrome Angiopathy, Congenital Dysplastic Syndrome, Klippel-Trénaunay-Weber Congenital Dysplastic Angiopathy Dysplastic Angiopathy, Congenital |
| 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/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| Inverse of SIB |
http://purl.bioontology.org/ontology/MESH/D013341 |
| 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 |
T769310 T811683 T841830 T023153 T768969 T844342 T023152 T768970 T841831 |
| TH |
NLM (1975) NLM (2011) NLM (1994) NLM (2014) ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |
| subClassOf |