| Metadata | |
|---|---|
| ID | DOID:0090050 |
| Name | dystonia 27 |
| Definition | A segmental dystonia characterized by autosomal recessive inheritance of segmental isolated dystonia mainly affecting the craniocervical region and upper limbs with onset in the first 2 decades of life that has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the collagen type VI alpha-3 gene on chromosome 2q37. https://www.omim.org/entry/616411, https://www.ncbi.nlm.nih.gov/pubmed/26004199 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a autosomal recessive disease is_a segmental dystonia |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |