FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Loeys-Dietz syndrome ID (Ontology) DOID:0050466 (Human Disease)
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.
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autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__syndrome____________________|
                                Loeys-Dietz syndrome  6 rec.
                                 |__Loeys-Dietz syndrome 1 1 rec.
                                 |__Loeys-Dietz syndrome 2 1 rec.
                                 |__Loeys-Dietz syndrome 3 1 rec.
                                 |__Loeys-Dietz syndrome 4 3 rec.
                                 |__Loeys-Dietz syndrome 5 3 rec.
                                 |__Loeys-Dietz syndrome 6 1 rec.
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Is a autosomal dominant disease
syndrome
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Synonyms
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GARD:10788
MESH:D055947
NCI:C75006
ORDO:60030
SNOMEDCT_US_2023_03_01:446263001
UMLS_CUI:C1836635
UMLS_CUI:C2697932