| Metadata | |
|---|---|
| ID | DOID:0090055 |
| Name | dystonia 25 |
| Definition | A multifocal dystonia that is characterized by cervical, laryngeal and hand-forearm dystonia, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the GNAL gene on chromosome 18p11. https://www.omim.org/entry/615073, https://www.ncbi.nlm.nih.gov/pubmed/28283962, https://www.ncbi.nlm.nih.gov/pubmed/30660597 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a autosomal dominant disease is_a multifocal dystonia |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |