| Preferred Name |
Klippel-Trenaunay-Weber Syndrome |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84801 |
| code |
C84801 |
| Concept_In_Subset | |
| Contributing_Source |
NICHD |
| DEFINITION |
A rare syndrome characterized by the presence of port-wine stain (a vascular malformation), varicose veins, and hypertrophy of the soft tissues and bones in an extremity. It usually affects one extremity, most commonly a leg. |
| Has_NICHD_Parent | |
| label |
Klippel-Trenaunay-Weber Syndrome |
| NICHD_Hierarchy_Term |
Klippel-Trenaunay-Weber Syndrome |
| Preferred_Name |
Klippel-Trenaunay-Weber Syndrome |
| prefixIRI |
C84801 |
| prefLabel |
Klippel-Trenaunay-Weber Syndrome |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0022739 |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/D007715 | Medical Subject Headings | LOOM | |
| http://purl.bioontology.org/ontology/OMIM/149000 | Online Mendelian Inheritance in Man | LOOM |