| Metadata | |
|---|---|
| ID | DOID:0090052 |
| Name | dystonia 24 |
| Definition | A focal dystonia that is characterized by focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the anoctamin 3 (ANO3) gene on chromosome 11p14. https://www.ncbi.nlm.nih.gov/pubmed/30455893, https://www.omim.org/entry/615034 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a autosomal dominant disease is_a focal dystonia |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |