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Summary Literature (0)
DOID:0070235 - Loeys-Dietz syndrome 1

Disease Ontology Definition:A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR1 gene on chromosome 9q22.

Synonyms: AAT5, Furlong syndrome, LDS1, familial throacic aortic aneurysm 5,

Xenbase Genes :



Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): Loeys-Dietz syndrome (is_a)