Loeys-Dietz syndrome 1

Term ID

DOID:0070235

Synonyms

• AAT5
• familial throacic aortic aneurysm 5
• Furlong syndrome
• LDS1

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

References

• OMIM:609192

Ontology

Human Disease   ( DOID:0070235 )