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Joubert Syndrome 18

Disease ID: disease_node_14699

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DbxrefMIM:614815
SubclassofDOID_0050777
Data SourceDOID
SynonymsJBTS18
Doid LabelJoubert syndrome 18
Doid DescriptionA Joubert syndrome that has_material_basis_in homozygous mutation in the TCTN3 gene on chromosome 10q24.
Disease Node Iddisease_node_14699
Doid IdDOID_0110987
LabelJoubert Syndrome 18