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Summary Literature (0)
DOID:0090052 - dystonia 24


Disease Ontology Definition:A focal dystonia that is characterized by focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the anoctamin 3 (ANO3) gene on chromosome 11p14.

Synonyms:

Xenbase Genes : ano3

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014019 - dystonia 24


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

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