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Loeys-Dietz Syndrome 2

Disease ID: disease_node_20176

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DbxrefMIM:610168
SubclassofDOID_0050466
Data SourceDOID
SynonymsAAT3, LDS2, Marfan syndrome type II, familial throacic aortic aneurysm 3
Doid LabelLoeys-Dietz syndrome 2
Doid DescriptionA Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p24.
Disease Node Iddisease_node_20176
Doid IdDOID_0070234
LabelLoeys-Dietz Syndrome 2