OBO ID: DOID:0090056
Term Name: dystonia 12 Search Ontology:
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)
OTHER dystonia 12 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ATP1A3 Dystonia-12 128235
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None