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Joubert Syndrome 13

Disease ID: disease_node_14704

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DbxrefMIM:614173
SubclassofDOID_0050777
Data SourceDOID
SynonymsJBTS13
Doid LabelJoubert syndrome 13
Doid DescriptionA Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TCTN1 gene on chromosome 12q24.
Disease Node Iddisease_node_14704
Doid IdDOID_0110982
LabelJoubert Syndrome 13