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Summary Literature (0)
DOID:0060557 - ataxia with oculomotor apraxia type 3

Disease Ontology Definition:An autosomal recessive cerebellar ataxia that is characterized by poor coordination and balance (ataxia) that worsen over time and that has_material_basis_in homozygous mutation in the PIK3R5 gene on chromosome 17p13.

Synonyms: ataxia-oculomotor apraxia 3,

Xenbase Genes : pik3r5

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014084 - ataxia with oculomotor apraxia type 3


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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive cerebellar ataxia (is_a)