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Schuurs-Hoeijmakers Syndrome

Disease ID: disease_node_16510

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DbxrefMIM:615009
SubclassofDOID_0060307
Data SourceDOID
SynonymsMRD17, SHMS, autosomal dominant mental retardation 17
Doid LabelSchuurs-Hoeijmakers Syndrome
Doid DescriptionAn autosomal domit intellectual developmental disorder that has_material_basis_in an autosomal domit mutation of the PACS1 gene on chromosome 11q13.1-q13.2.
Disease Node Iddisease_node_16510
Doid IdDOID_0070047
LabelSchuurs-Hoeijmakers Syndrome