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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.ncbi.nlm.nih.gov/pubmed/26004199, https://www.omim.org/entry/616411
Xrefs	ICD10CM:G24.1 OMIM:616411 ORDO:464440
Subsets	DO_rare_slim
Parent Relationships	is_a segmental dystonia is_a autosomal recessive disease