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Loeys-Dietz Syndrome 4

Disease ID: disease_node_20177

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DbxrefMIM:614816
SubclassofDOID_0050466
Data SourceDOID
SynonymsAneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations, LDS4
Doid LabelLoeys-Dietz syndrome 4
Doid DescriptionA Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB2 gene on chromosome 1q41.
Disease Node Iddisease_node_20177
Doid IdDOID_0070233
LabelLoeys-Dietz Syndrome 4