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Human Disease

dystonia 12

Term ID
DOID:0090056
Synonyms
Definition
A dystonia that is characterized by asymmetric dystonia and parkinsonism with abrupt onset in young adulthood that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the alpha-3 subunit of the N,K-ATPase (ATP1A3) on chromosome 19q13. (2)
References
Ontology
Human Disease   ( DOID:0090056 )
Relationships
is a type of
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Genes Involved
Zebrafish Models