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ENLoeys-Dietz Syndrome 3 (LDS3)
Alias:
Aneurysm-Osteoarthritis Syndrome
Loeys-Dietz Syndrome with Osteoarthritis
Aneurysms-Osteoarthritis Syndrome
Lds3
Lds1c
Loeys-Dietz Syndrome, Type 1c, Formerly
Loeys-Dietz Syndrome Type 1c
Loeys-Dietz Syndrome, Type 3
Loeys-Dietz Syndrome 1c
Lds1c, Formerly
Aos
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Loeys-Dietz Syndrome 3, also known as aneurysm-osteoarthritis syndrome, is related to supravalvular aortic stenosis and loeys-dietz syndrome 1. An important gene associated with Loeys-Dietz Syndrome 3 is SMAD3 (SMAD Family Member 3), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. Affiliated tissues include heart and bone, and related phenotypes are pes planus and dilatation of the sinus of valsalva
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