Search Ontology:
Human Disease

dystonia 33

Term ID
DOID:0060940
Synonyms
Definition
A dystonia characterized by a neurologic disorder with onset of focal or generalized dystonia in the first decades of life (from early childhood to adolescence) that has_material_basis_in heterozygous mutation in the EIF2AK2 gene on chromosome 2p22. https://pubmed.ncbi.nlm.nih.gov/33236446/
References
Ontology
Human Disease   ( DOID:0060940 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models