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Metadata
ID DOID:0070236
Name Loeys-Dietz syndrome 5
Definition A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24.
https://www.ncbi.nlm.nih.gov/pubmed/23824657, https://www.ncbi.nlm.nih.gov/pubmed/25835445
Xrefs

OMIM:615582

Synonyms

LDS5 [EXACT]

Reinhoff syndrome [EXACT]

RNHF [EXACT]

Parent Relationships

is_a Loeys-Dietz syndrome

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