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Joubert Syndrome 27

Disease ID: disease_node_14712

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DbxrefMIM:617120
SubclassofDOID_0050777
Data SourceDOID
SynonymsJBTS27
Doid LabelJoubert syndrome 27
Doid DescriptionA Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the B9D1 gene on chromosome 17p11.
Disease Node Iddisease_node_14712
Doid IdDOID_0110996
LabelJoubert Syndrome 27