Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	KLIPPEL-TRENAUNAY-WEBER SYNDROME
Synonyms	ANGIOOSTEOHYPERTROPHY SYNDROME
ID	http://purl.bioontology.org/ontology/OMIM/149000
altLabel	ANGIOOSTEOHYPERTROPHY SYNDROME KTW SYNDROME KLIPPEL-TRENAUNAY SYNDROME KTS
cui	C0022739
Gene Locus	8q22.3
Gene Symbol	KTWS KTS
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU001042 http://purl.bioontology.org/ontology/OMIM/MTHU004639 http://purl.bioontology.org/ontology/OMIM/MTHU036337 http://purl.bioontology.org/ontology/OMIM/MTHU017561 http://purl.bioontology.org/ontology/OMIM/MTHU041322 http://purl.bioontology.org/ontology/OMIM/MTHU004223 http://purl.bioontology.org/ontology/OMIM/MTHU000133 http://purl.bioontology.org/ontology/OMIM/MTHU007674 http://purl.bioontology.org/ontology/OMIM/MTHU005516 http://purl.bioontology.org/ontology/OMIM/MTHU017328 http://purl.bioontology.org/ontology/OMIM/MTHU015908 http://purl.bioontology.org/ontology/OMIM/MTHU017558 http://purl.bioontology.org/ontology/OMIM/MTHU017562 http://purl.bioontology.org/ontology/OMIM/MTHU041323
MIMTYPEMEANING	Mendelian phenotype or locus, molecular basis unknown.
notation	149000
OMIM Entry Type	5
OMIM MimType Value	perc
prefLabel	KLIPPEL-TRENAUNAY-WEBER SYNDROME
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/D007715	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/D007715	Medical Subject Headings	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84801	National Cancer Institute Thesaurus	LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q87.2	International Classification of Diseases, Version 10 - Clinical Modification	CUI