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Term:
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Loeys-Dietz syndrome +     
Ascending Aortic Aneurysm, Hypertelorism, Bifid Uvula, Cleft Palate, and Arterial Tortuosity 
Loeys-Dietz syndrome 1  
Loeys-Dietz syndrome 2  
Loeys-Dietz syndrome 3  
Loeys-Dietz syndrome 4  
Loeys-Dietz syndrome 5  
A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24. (DO)
Loeys-Dietz syndrome 6  
Loeys-Dietz Syndrome, Type 1b  

Synonyms
Exact Synonyms: LDS5 ;   RNHF ;   Reinhoff syndrome ;   Rienhoff syndrome
Broad Synonyms: TGFB3-RELATED CONDITION
Primary IDs: MIM:615582
Xrefs: EFO:1000012
Definition Sources: PMID:23824657 "DO" "DO", PMID:25835445 "DO" "DO"

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