OBO ID: DOID:0090039
Term Name: torsion dystonia 6 Search Ontology:
Synonyms:
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. (2)
References:
Ontology: Human Disease   ( DOID:0090039 )
OTHER torsion dystonia 6 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
THAP1 Dystonia 6, torsion 602629
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None