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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, https://www.omim.org/entry/602629
Xrefs

ICD10CM:G24.1

OMIM:602629

ORDO:98806

Subsets

DO_rare_slim

Parent Relationships

is_a generalized dystonia

is_a autosomal dominant disease

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