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Summary Literature (0)
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 autosomal recessive inheritance of compound heterozygous mutation in the collagen type VI alpha-3 gene on chromosome 2q37.

Synonyms:

Xenbase Genes : col6a3

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014627 - dystonia 27


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), segmental dystonia (is_a)