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Joubert Syndrome 32

Disease ID: disease_node_14708

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DbxrefMIM:617757
SubclassofDOID_0050777
Data SourceDOID
Doid LabelJoubert syndrome 32
Doid DescriptionA Joubert syndrome that has_material_basis_in homozygous mutation in the SUFU gene on chromosome 10q24.
Disease Node Iddisease_node_14708
Doid IdDOID_0080278
LabelJoubert Syndrome 32