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Joubert Syndrome 21

Disease ID: disease_node_14697

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DbxrefMIM:615636
SubclassofDOID_0050777
Data SourceDOID
SynonymsJBTS21
Doid LabelJoubert syndrome 21
Doid DescriptionA Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CSPP1 gene on chromosome 8q13.
Disease Node Iddisease_node_14697
Doid IdDOID_0110990
LabelJoubert Syndrome 21