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Metadata
ID DOID:0070235
Name Loeys-Dietz syndrome 1
Definition A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR1 gene on chromosome 9q22.
https://www.ncbi.nlm.nih.gov/pubmed/15731757
Xrefs

OMIM:609192

Synonyms

AAT5 [EXACT]

familial throacic aortic aneurysm 5 [EXACT]

Furlong syndrome [EXACT]

LDS1 [EXACT]

Parent Relationships

is_a Loeys-Dietz syndrome

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