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DOID:0090050 - dystonia 27
Disease Ontology 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 compound heterozygous mutation in the COL6A3 gene on chromosome 2q37.
Synonyms:
Echinobase Genes :
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
segmental dystonia (is_a)