ataxia with oculomotor apraxia type 3 Disease Ontology Browser

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Disease Ontology Browser

ataxia with oculomotor apraxia type 3 (DOID:0060557)
Alliance: disease page
Synonyms: ataxia-oculomotor apraxia 3
Alt IDs: OMIM:615217
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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