Search Ontology:
Human Disease

torsion dystonia 6

Term ID
DOID:0090039
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. https://ghr.nlm.nih.gov/condition/dystonia-6
References
Ontology
Human Disease   ( DOID:0090039 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Human Gene Zebrafish Ortholog OMIM Term Disease OMIM Phenotype ID
THAP1Dystonia 6, torsiontorsion dystonia 6602629
1 - 1 of 1
Show
Zebrafish Models
No data available
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.