| Metadata | |
|---|---|
| ID | DOID:0090038 |
| Name | torsion dystonia 2 |
| Definition | A dystonia that initially involves the distal limbs and later involves the neck, orofacial, and craniocervical regions, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hippocalcin (HPCA) gene on chromosome 1p35. https://www.ncbi.nlm.nih.gov/pubmed/25799108, https://www.omim.org/entry/224500 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a dystonia |