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Summary Literature (0)
DOID:0090039 - torsion dystonia 6

Disease Ontology Definition:A characterized by autosomal dominant inheritance of early-onset generalised dystonia typically involing the craniocervical region with spasmodic dysphonia that has_material_basis_in heterozygous mutation in the THAP1 gene on chromosome 8p11.


Referenced OMIM:

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : thap1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): generalized dystonia (is_a)

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