spastic ataxia 5 Disease Ontology Browser

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Disease Ontology Browser

spastic ataxia 5 (DOID:0050944)
Alliance: disease page
Alt IDs: OMIM:614487
Definition: A spastic ataxia that is characterized by early onset of cerebellar ataxia, spasticity, oculomotor apraxia, dystonia and myoclonic epilepsy, has_material_basis_in homozygous mutation in the AFG3L2 gene on chromosome 18p11.

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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