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Echinobase
Summary Literature (0)
DOID:0070234 - Loeys-Dietz syndrome 2

Disease Ontology Definition:A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p24.

Synonyms: AAT3, LDS2, Marfan syndrome type II, familial throacic aortic aneurysm 3,

Echinobase Genes : tgfbr2


OMIM:
MIM:610168 - loeys-dietz syndrome 2; lds2

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

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