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Klippel-Trenaunay syndrome

Summary
Synonym
  • Haemangiectatic hypertrophy
  • Klippel-Trenaunay-Weber syndrome
  • angioosteohypertrophy syndrome
Definition
A syndrome that is characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues.
Super Class
syndrome
External Links
Disease Ontology
DOID:2926
Mondo Disease Ontology
MeSH
UMLS
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ORDO
OMIM
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
4968 OGG1 8-oxoguanine DNA glycosylase
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
8809 IL18R1 interleukin 18 receptor 1
55556 ENOSF1 enolase superfamily member 1
Related Glycoprotein
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 19, 2024