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Meester-Loeys Syndrome

Disease ID: disease_node_19688

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DbxrefMIM:300989
SubclassofDOID_225, DOID_0050735
Data SourceDOID
SynonymsMRLS
Doid LabelMeester-Loeys syndrome
Doid DescriptionA syndrome characterized by early-onset aortic aneurysm and dissection in hemizygous males and variable presentation from unaffected to fatal aortic dissection in heterozygous females, as well as facial dysmorphism, connective tissue anomalies, and features of Loeys-Dietz syndrome that has_material_basis_in mutation in BGN on chromosome Xq28.
Has Material Basis InGENO_0000936
Disease Node Iddisease_node_19688
Doid IdDOID_0111861
LabelMeester-Loeys Syndrome