torsion dystonia 6

Summary

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: thap1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011264 - torsion dystonia 6

MONDO:0011264 - torsion dystonia 6

Other Model Organisms: AGR, 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)