| Metadata | |
|---|---|
| ID | DOID:0090044 |
| Name | dystonia 9 |
| Definition | A dystonia that is characterized by paroxysmal choreoathetosis and progressive spastic paraplegia, with episodes often precipitated by alcohol, fatigue, or emotional stress, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34. https://www.ncbi.nlm.nih.gov/pubmed/30616884, https://www.omim.org/entry/601042, https://www.ncbi.nlm.nih.gov/books/NBK1430/ |
| Xrefs | |
| SKOS |
exactMatch UMLS_CUI:C1832855 broadMatch MESH:C563401 |
| Subsets |
DO_rare_slim |
| Synonyms |
paroxysmal choreoathetosis with spasticity [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a glucose transporter type 1 deficiency syndrome is_a dystonia |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance has disease driver some alcohol |