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Autosomal Domit Wolfram Syndrome

Disease ID: disease_node_20159

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DbxrefMIM:614296
SubclassofDOID_0050736, DOID_10632
Data SourceDOID
Doid Labelautosomal domit Wolfram syndrome
Doid DescriptionA Wolfram syndrome that is characterized by congenital progressive hearing impairment, diabetes mellitus, and optic atrophy and that has_material_basis_in autosomal domit inheritance of a heterozygous mutation in the WFS1 gene on chromosome 4p16.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_20159
Doid IdDOID_0080584
LabelAutosomal Domit Wolfram Syndrome