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Orofaciodigital Syndrome Xvii

Disease ID: disease_node_19248

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DbxrefMIM:617926
SubclassofDOID_0050737, DOID_4501
Data SourceDOID
Doid Labelorofaciodigital syndrome XVII
Doid DescriptionAn orofaciodigital syndrome that has_material_basis_in homozygous mutation in the INTU gene on chromosome 4q28.
Has Material Basis InGENO_0000148
Disease Node Iddisease_node_19248
Doid IdDOID_0080289
LabelOrofaciodigital Syndrome Xvii