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Rhabdoid Tumor Predisposition Syndrome 2

Disease ID: disease_node_20131

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DbxrefMIM:613325
SubclassofDOID_0070617
Data SourceDOID
SynonymsRTPS2
Doid Labelrhabdoid tumor predisposition syndrome 2
Doid DescriptionA rhabdoid tumor predisposition syndrome that has_material_basis_in heterozygous germline mutation in the SMARCA4 gene on chromosome 19p13.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_20131
Doid IdDOID_0060997
LabelRhabdoid Tumor Predisposition Syndrome 2