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Baraitser-Winter Syndrome 2

Disease ID: disease_node_20082

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DbxrefMIM:614583
SubclassofDOID_0050736, DOID_0060229
Data SourceDOID
Doid LabelBaraitser-Winter syndrome 2
Doid DescriptionA Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTG1 gene on chromosome 17q25.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_20082
Doid IdDOID_0081113
LabelBaraitser-Winter Syndrome 2