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Joubert Syndrome 28

Disease ID: disease_node_14706

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DbxrefMIM:617121
SubclassofDOID_0050777
Data SourceDOID
SynonymsJBTS28
Doid LabelJoubert syndrome 28
Doid DescriptionA Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKS1 gene on chromosome 17q23.
Disease Node Iddisease_node_14706
Doid IdDOID_0110997
LabelJoubert Syndrome 28