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Hypermanganesemia With Dystonia 2

Disease ID: disease_node_17547

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DbxrefMIM:617013
SubclassofDOID_0080535
Data SourceDOID
Doid Labelhypermanganesemia with dystonia 2
Doid DescriptionA hypermanganesemia with dystonia that is characterized predomitly by loss of motor milestones in the first years of life and has_material_basis_in homozygous mutation in the SLC39A14 gene on chromosome 8p21.
Disease Node Iddisease_node_17547
Doid IdDOID_0080537
LabelHypermanganesemia With Dystonia 2