Visualize Submit Comment
Metadata
ID DOID:0090039
Name torsion dystonia 6
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.
https://ghr.nlm.nih.gov/condition/dystonia-6
Xrefs

ICD10CM:G24.1

MIM:602629

ORDO:98806

Subsets

DO_rare_slim

Parent Relationships

is_a autosomal dominant disease

is_a generalized dystonia

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

Add an item to the term tracker