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ENLoeys-Dietz Syndrome (LDS)
Alias:
Loeys-Dietz Aortic Aneurysm Syndrome
Aortic Aneurysm Syndrome Due to Tgf-Beta Receptors Anomalies
Furlong Syndrome
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Loeys-Dietz Syndrome, also known as loeys-dietz aortic aneurysm syndrome, is related to loeys-dietz syndrome 2 and loeys-dietz syndrome 5. An important gene associated with Loeys-Dietz Syndrome is TGFBR2 (Transforming Growth Factor Beta Receptor 2), and among its related pathways/superpathways are Signal Transduction and ERK Signaling. The drugs Heparin, bovine and Calcium heparin have been mentioned in the context of this disorder. Affiliated tissues include spinal cord and bone, and related phenotypes are high palate and pes planus
Related ID：
MESH：D055947
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MALACARDS
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