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 |