Preferred Name

Klippel-Trenaunay-Weber Syndrome

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84801

code

C84801

Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99147

Contributing_Source

NICHD

Cellosaurus

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.

FULL_SYN

Klippel-Trenaunay-Weber Syndrome

label

Klippel-Trenaunay-Weber Syndrome

Preferred_Name

Klippel-Trenaunay-Weber Syndrome

prefixIRI

Thesaurus:C84801

prefLabel

Klippel-Trenaunay-Weber Syndrome

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0022739

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193

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http://purl.bioontology.org/ontology/MESH/D007715 Medical Subject Headings / 医学主题词表 LOOM
http://purl.bioontology.org/ontology/OMIM/149000 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM