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Multiple Synostoses Syndrome 4

Disease ID: disease_node_15742

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DbxrefMIM:617898
SubclassofDOID_0050794
Data SourceDOID
Doid Labelmultiple synostoses syndrome 4
Doid DescriptionA multiple synostoses syndrome that is characterized by fusion of carpal and tarsal bones, as well as conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF6 gene on chromosome 8q22.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_15742
Doid IdDOID_0081320
LabelMultiple Synostoses Syndrome 4