| Metadata | |
|---|---|
| ID | DOID:0090049 |
| Name | paroxysmal nonkinesigenic dyskinesia 1 |
| Definition | A dystonia that is characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the PNKD metallo-beta-lactamase domain containing gene on chromosome 2q35. https://ghr.nlm.nih.gov/condition/familial-paroxysmal-nonkinesigenic-dyskinesia, https://www.ncbi.nlm.nih.gov/pubmed/28090678 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a autosomal dominant disease is_a dystonia |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance has disease driver some alcohol |