OBO ID: DOID:0090039
Term Name: torsion dystonia 6 Search Ontology:
Synonyms:
Definition: A characterized by autosomal dominant inheritance of early-onset generalised dystonia typically involing the craniocervical region with spasmodic dysphonia that has_material_basis_in heterozygous mutation in the THAP1 gene on chromosome 8p11.
References:
Ontology: Human Disease   (DOID:0090039)
Relationships
is a type of:
OTHER torsion dystonia 6 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
THAP1 Dystonia 6, torsion 602629
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None