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Orofaciodigital Syndrome Xvi

Disease ID: disease_node_19249

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DbxrefMIM:617563
SubclassofDOID_0050737, DOID_4501
Data SourceDOID
Doid Labelorofaciodigital syndrome XVI
Doid DescriptionAn orofaciodigital syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13.
Has Material Basis InGENO_0000148
Disease Node Iddisease_node_19249
Doid IdDOID_0080254
LabelOrofaciodigital Syndrome Xvi