OBO ID: DOID:0050466 |
Term Name: | Loeys-Dietz syndrome | Search Ontology: | |
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Definition: | A syndrome that is characterized by increased risk of aortic aneurysm and dissection, elongated limbs, hypertelorism, bifid uvula and easy skin bruising due to mutations in TGFB3 that results in connective tissue defects. https://en.wikipedia.org/wiki/Loeys%E2%80%93Dietz_syndrome | ||
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Ontology: | Human Disease ( DOID:0050466 ) |
OTHER Loeys-Dietz syndrome PAGES
GENES INVOLVED
No data available
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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