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Loeys-Dietz Syndrome 5

Disease ID: disease_node_20174

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DbxrefMIM:615582
SubclassofDOID_0050466
Data SourceDOID
SynonymsLDS5, RNHF, Reinhoff syndrome
Doid LabelLoeys-Dietz syndrome 5
Doid DescriptionA Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24.
Disease Node Iddisease_node_20174
Doid IdDOID_0070236
LabelLoeys-Dietz Syndrome 5