_:vb50942164 . "ORDO:464440"^^ . "dystonia 27"^^ . . _:vb50942164 . _:vb50942164 . "disease_ontology"^^ . _:vb50942164 . _:vb50942164 . "ICD10CM:G24.1"^^ . . "DOID:0090050"^^ . . "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."^^ . . "OMIM:616411"^^ .