| Metadata | |
|---|---|
| ID | DOID:0070445 |
| Name | early-onset dystonia and/or spastic paraplegia |
| Definition | A dystonia characterized by variable onset of dystonia, spasticity, or both that has_material_basis_in heterozygous mutation in the ATP5MC3 gene on chromosome 2q31.1. https://pubmed.ncbi.nlm.nih.gov/34636445/ |
| Xrefs | |
| SKOS |
exactMatch MIM:619681 |
| Parent Relationships |
is_a autosomal dominant disease is_a dystonia |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |