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Summary Literature (1)
DOID:0090048 - dystonia 16

Disease Ontology Definition:A multifocal dystonia that is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism, and that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the protein activator of interferon induced protein kinase EIF2AK2 (PRKRA) gene on chromosome 2q31.


Xenbase Genes : prkra

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012789 - dystonia 16

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), multifocal dystonia (is_a)