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Joubert Syndrome 20

Disease ID: disease_node_14698

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DbxrefMIM:614970
SubclassofDOID_0050777
Data SourceDOID
SynonymsJBTS20
Doid LabelJoubert syndrome 20
Doid DescriptionA Joubert syndrome that has_material_basis_in compound heterozygous mutation in the TMEM231 gene on chromosome 16q23.
Disease Node Iddisease_node_14698
Doid IdDOID_0110989
LabelJoubert Syndrome 20