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


Disease Ontology Definition:A generalized dystonia that is characterized by early-onset generalised dystonia typically involing the craniocervical region with spasmodic dysphonia that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the THAP domain containing 1 gene (THAP1) on chromosome 8p11.

Synonyms:

Xenbase Genes : thap1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011264 - torsion dystonia 6


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), generalized dystonia (is_a)